ClinVar Genomic variation as it relates to human health
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic(14); Likely pathogenic(7); Uncertain significance(8)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
Variation ID: 2548 Accession: VCV000002548.87
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p13.3 16: 3243257 (GRCh38) [ NCBI UCSC ] 16: 3293257 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 May 12, 2024 Mar 26, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000243.3:c.2230G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000234.1:p.Ala744Ser missense NM_001198536.2:c.*434G>T 3 prime UTR NC_000016.10:g.3243257C>A NC_000016.9:g.3293257C>A NG_007871.1:g.18371G>T LRG_190:g.18371G>T LRG_190t1:c.2230G>T LRG_190p1:p.Ala744Ser O15553:p.Ala744Ser - Protein change
- Other names
- A744S
- Canonical SPDI
- NC_000016.10:3243256:C:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00180 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00148
Trans-Omics for Precision Medicine (TOPMed) 0.00173
1000 Genomes Project 0.00180
1000 Genomes Project 30x 0.00187
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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MEFV | No evidence available | No evidence available |
GRCh38 GRCh37 |
949 | 1246 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Conflicting interpretations of pathogenicity (12) |
criteria provided, conflicting classifications
|
Mar 26, 2024 | RCV000002657.44 | |
Conflicting interpretations of pathogenicity (15) |
criteria provided, conflicting classifications
|
Nov 10, 2023 | RCV000213702.58 | |
Pathogenic (2) |
criteria provided, single submitter
|
Nov 28, 2017 | RCV000768020.14 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Mar 9, 2023 | RCV000999738.14 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 23, 2021 | RCV001535864.12 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Oct 31, 2023 | RCV001770031.14 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 5, 2022 | RCV002262547.10 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 23, 2017 | RCV002415388.9 | |
MEFV-related disorder
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Pathogenic (1) |
criteria provided, single submitter
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Feb 24, 2024 | RCV004532274.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jun 23, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000331539.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 17
Sex: mixed
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Pathogenic
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000396760.3
First in ClinVar: Dec 06, 2016 Last updated: May 27, 2019 |
Comment:
The MEFV c.2230G>T (p.Ala744Ser) missense variant is well described in the literature as a pathogenic variant for familial Mediterranean fever (FMF). The variant has been … (more)
The MEFV c.2230G>T (p.Ala744Ser) missense variant is well described in the literature as a pathogenic variant for familial Mediterranean fever (FMF). The variant has been reported in at least 12 studies in which it is found in at least 141 patients with FMF, including one homozygote, 26 compound heterozygotes, and 114 heterozygotes, plus an additional 56 of 4624 patient alleles where zygosity information is not provided (Bernot et al. 1998; Aksentijevich et al. 1999; Tchernitchko et al. 2003; Caglayan et al. 2010; Medlej-Hashim et al. 2010; Ait-Idir et al. 2011; Kilim et al. 2011; Ozdemir et al. 2011; Belmahi et al. 2012; Yesilad et al. 2012; Habahbeh et al. 2015; Salehzadeh et al. 2015). Across these studies, the variant was also reported in seven out of 950 control alleles. The p.Ala744Ser variant is also reported at a frequency of 0.01869 in the Iberian Populations in Spain cohort in the 1000 Genomes Project. This allele frequency is high but is consistent with estimates of disease prevalence. Based on the collective evidence, the p.Ala744Ser variant is classified as pathogenic for familial Mediterranean fever. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(May 22, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002521132.1
First in ClinVar: Jun 05, 2022 Last updated: Jun 05, 2022 |
Comment:
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.176%). Missense changes are a common disease-causing mechanism. … (more)
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.176%). Missense changes are a common disease-causing mechanism. Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000002548). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 2 similarly affected unrelated individuals (PMID: 17566872, 19934083). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Hypertrophic cardiomyopathy (present) , Anemia (present) , Thrombocytopenia (present)
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Pathogenic
(Apr 05, 2022)
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criteria provided, single submitter
Method: clinical testing
|
Autoinflammatory syndrome
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002543741.1
First in ClinVar: Jul 09, 2022 Last updated: Jul 09, 2022 |
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Uncertain significance
(Mar 09, 2023)
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criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052845.8
First in ClinVar: Apr 04, 2013 Last updated: May 13, 2023 |
Comment:
Variant summary: MEFV c.2230G>T (p.Ala744Ser) results in a conservative amino acid change located in the B30.2/SPRY domain (IPR001870) of the encoded protein sequence. Four of … (more)
Variant summary: MEFV c.2230G>T (p.Ala744Ser) results in a conservative amino acid change located in the B30.2/SPRY domain (IPR001870) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0019 in 252830 control chromosomes, with 2 homozygotes. The variant occurs predominantly at a frequency of 0.013 within the confined population of Ashkenazi Jewish in the gnomAD database. A study conducted using data from the National Center for FMF in Israel, estimated the total frequency of FMF allele occurrence in ASJ population to be 1:161 (i.e. 0.0062) (Lidar_2010). The reported allele frequency of c.2230G>T in the ASJ population in the gnomAD database is 2-fold of the estimated total frequency of FMF allele occurrence in ASJ (0.013 vs. 0.0062), suggesting that the variant is a benign polymorphism. Furthermore, recent studies in Arabic individuals (a population not represented in the gnomAD database) report the variant as benign/likely benign based on a population frequency of >1% and its presence in the homozygous state in multiple individuals who lack the FMF phenotype (Abouelhoda_2016, John_2018, Alsubaie_2020). Further evidence in support of benign polymorphism comes from Alsubaie et al (2020) reporting absence of favorable response to 6 months of colchicine therapy in two heterozygous cases with a clinical picture resembling FMF. c.2230G>T has been reported in the literature in the heterozygous, compound heterozygous or homozygous state in multiple individuals reported with symptoms of Familial Mediterranean Fever (e.g. Bernot_1998, Aksentijevich_1999, Tchernitchko_2003, Sabbagh_2008, Akin_2010, Jarjour_2010, Ozdemir_2011, Ceylan_2012, Neocleous_2015, Salehzadeh_2015, Mattit_2016, Gumus_2018, Sari_2021) but has also been reported in healthy controls (e.g. Aldea_2004, Simsek_2011, John_2018). Many of these studies (especially earlier publications which led to the classification of the variant as pathogenic by multiple clinical providers), utilized only a restricted panel of variants or limited sequencing for targeted testing of individuals, and a large number of studies do not specify usage of Tel Hashomer clinical criteria to confirm diagnosis of FMF. In 2018, the experts international study group for systemic autoinflammatory diseases (INSAID) reported a validated classification of uncertain significance for the variant (Van Gijn_2018). Therefore, these reports do not allow unequivocal conclusions about association of the variant with Familial Mediterranean Fever. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Many clinical-significance assessments for this variant have been submitted to ClinVar after 2014. A majority (18 of 23) cite the variant as pathogenic/likely pathogenic and five ClinVar submitters cite the variant as uncertain significance. However, it is not clear how many submitters considered the recent reports by Alsubaie_2020 and Van Gijn_2018 in the context of their evaluation. Based on recent evidence that became available as outlined above, the variant was re-classified as uncertain significance from a previous classification of pathogenic. (less)
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Pathogenic
(Sep 21, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever, autosomal dominant
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
Accession: SCV004045785.1
First in ClinVar: Oct 21, 2023 Last updated: Oct 21, 2023 |
Number of individuals with the variant: 1
Clinical Features:
Abnormality of complement system (present) , Status post organ transplantation (present) , Kidney disorder (present)
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Uncertain significance
(Sep 22, 2022)
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criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: unknown
Allele origin:
germline
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV002541304.2
First in ClinVar: Jul 09, 2022 Last updated: Jan 26, 2024 |
Number of individuals with the variant: 6
|
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Pathogenic
(Jun 02, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002017262.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
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Uncertain significance
(Mar 26, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004806538.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
|
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Uncertain significance
(Aug 23, 2017)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002725393.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.A744S variant (also known as c.2230G>T), located in coding exon 10 of the MEFV gene, results from a G to T substitution at nucleotide … (more)
The p.A744S variant (also known as c.2230G>T), located in coding exon 10 of the MEFV gene, results from a G to T substitution at nucleotide position 2230. The alanine at codon 744 is replaced by serine, an amino acid with similar properties. This variant has been reported in individuals with a clinical diagnosis of familial Mediterranean fever alone or in conjunction with a second MEFV alteration; however, the phase (whether in cis or trans) is not known (Bernot A et al. Hum. Mol. Genet., 1998 Aug;7:1317-25; Aksentijevich I et al. Am. J. Hum. Genet., 1999 Apr;64:949-62; Giaglis S et al. Clin. Genet., 2007 May;71:458-67; Caglayan AO et al. Nephrol. Dial. Transplant., 2010 Aug;25:2520-3). In addition, an individual undergoing carrier screening for another disorder was found to be homozygous for this variant (Mikula M et al. Genet. Med., 2008 May;10:349-52). This amino acid position is poorly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is conflicting at this time, the clinical significance of this alteration remains unclear. (less)
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Likely pathogenic
(Jun 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV000608743.24
First in ClinVar: Oct 30, 2017 Last updated: May 12, 2024 |
Comment:
MEFV: PM1:Strong, PM2:Supporting, PP1, PP4, BP4
Number of individuals with the variant: 29
|
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Pathogenic
(Nov 28, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV000898821.1
First in ClinVar: Apr 25, 2019 Last updated: Apr 25, 2019 |
Comment:
MEFV NM_000243.2 exon 10 p.Ala744Ser (c.2230G>T): This variant is a well reported pathogenic variant in the literature (including a GeneReviews entry) and has been identified … (more)
MEFV NM_000243.2 exon 10 p.Ala744Ser (c.2230G>T): This variant is a well reported pathogenic variant in the literature (including a GeneReviews entry) and has been identified in several individuals with Familial Mediterranean Fever (FMF) (Bernot 1998 PMID:9668175, Aksentijevich 1999 PMID:10090880, Caglayan 2010 PMID:19934083, Ait-Idir 2011 PMID:22019805, Salehzadeh 2015 PMID:25648235, Shohat 2016 PMID:20301405). This variant is present in 1% (129/10152) of Ashkenazi Jewish alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs61732874). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. This variant is present in ClinVar, with several labs classifying this variant as pathogenic (Variation ID:2548). In summary, despite the presence of conflicting data (i.e. high frequency in the population, non-conserved amino acid position), this is consistent with the expected disease prevalence and carrier status of this condition. Therefore this variant is classified as pathogenic. (less)
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Uncertain significance
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001139810.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
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Likely pathogenic
(Dec 31, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV001193781.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_000243.2(MEFV):c.2230G>T(A744S) is classified as likely pathogenic in the context of familial Mediterranean fever. Please note that In the absence of a known personal and/or family … (more)
NM_000243.2(MEFV):c.2230G>T(A744S) is classified as likely pathogenic in the context of familial Mediterranean fever. Please note that In the absence of a known personal and/or family history of inflammatory disease, the clinical significance of this MEFV mutation status is uncertain. Sources cited for classification include the following: PMID 28590056, 20008924, 27659338, 27884173, 22019805, 23716950, 15024744, 19863562, 22661645, 19786432, 19934083, 26843738, 23031807, 20177433 and 19449169. Classification of NM_000243.2(MEFV):c.2230G>T(A744S) is based on the following criteria: This variant has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Oct 23, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
(Autosomal unknown)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447980.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Fever (present) , Amyloidosis (present)
Sex: male
|
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Likely pathogenic
(Apr 26, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450225.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 7
|
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Likely pathogenic
(May 18, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV001737246.1
First in ClinVar: Jun 19, 2021 Last updated: Jun 19, 2021 |
Sex: mixed
|
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Pathogenic
(Jun 30, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever Acute febrile neutrophilic dermatosis
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV001752479.1
First in ClinVar: Jul 18, 2021 Last updated: Jul 18, 2021
Comment:
This variant has been detected in individual(s) who were sent for testing of Renasight - kidney gene panel.
|
|
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Likely pathogenic
(Mar 29, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: yes
Allele origin:
germline
|
AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002502688.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Secondary finding: no
|
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Likely pathogenic
(Dec 17, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
Accession: SCV002818146.1
First in ClinVar: Jan 07, 2023 Last updated: Jan 07, 2023 |
|
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Uncertain significance
(Nov 10, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000279063.11
First in ClinVar: May 29, 2016 Last updated: Mar 04, 2023 |
Comment:
Reported previously in either the homozygous state or along with another pathogenic MEFV variant in association with familial Mediterranean fever in families of various ancestries … (more)
Reported previously in either the homozygous state or along with another pathogenic MEFV variant in association with familial Mediterranean fever in families of various ancestries in published literature and referred for genetic testing at GeneDx (Aksentijevich, 1999; Bernot et al., 1998; Rodriguez-Flores et al., 2014; Moradian et al., 2014; Caglayan et al., 2010; Oztuzcu et al., 2014; Oksuz et al., 2016); Modeling studies of the pyrin protein indicate that the variant may affect folding of the binding cavity or impair interaction with other molecules (Goulielmos et al., 2006); however, in the absence of functional studies, the actual effect of this sequence change is unknown; Listed in ClinVar with conflicting classification (VCV000002548); This variant is associated with the following publications: (PMID: 28943464, 31804137, 22975760, 27884173, 24123366, 20041150, 9668175, 27659338, 28927886, 26360812, 28573371, 30487145, 29543225, 26843738, 30783801, 22903357, 23031807, 31171010, 31692716, 30915208, 33440462, 29080837, 29808155, 16730661, 10090880, 33738724, 32401353) (less)
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Pathogenic
(Mar 18, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV003836437.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
|
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Pathogenic
(Nov 23, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant
Affected status: unknown
Allele origin:
germline
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV003920205.1
First in ClinVar: Apr 30, 2023 Last updated: Apr 30, 2023 |
Comment:
MEFV NM_000243 exon 10 p.Ala744Ser (c.2230G>T): This variant is a well reported pathogenic variant in the literature (including a GeneReviews entry) and has been identified … (more)
MEFV NM_000243 exon 10 p.Ala744Ser (c.2230G>T): This variant is a well reported pathogenic variant in the literature (including a GeneReviews entry) and has been identified in several individuals with Familial Mediterranean Fever (FMF) (Bernot 1998 PMID:9668175, Aksentijevich 1999 PMID:10090880, Caglayan 2010 PMID:19934083, Ait-Idir 2011 PMID:22019805, Salehzadeh 2015 PMID:25648235, Shohat 2016 PMID:20301405). This variant is present in 1% (129/10152) of Ashkenazi Jewish alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs61732874). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. This variant is present in ClinVar, with several labs classifying this variant as pathogenic (Variation ID:2548). In summary, despite the presence of conflicting data (i.e. high frequency in the population, non-conserved amino acid position), this is consistent with the expected disease prevalence and carrier status of this condition. Therefore this variant is classified as pathogenic. (less)
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Likely pathogenic
(Oct 31, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever, autosomal dominant
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004194403.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
Uncertain significance
(Apr 20, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV004220020.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
This variant has been identified in multiple individuals with Familial Mediterranean Fever (FMF) (PMID: 17566872 (2008), 23716950 (2012), 26005881 (2015), 29735907 (2018), 30476289 (2019), 32824452 … (more)
This variant has been identified in multiple individuals with Familial Mediterranean Fever (FMF) (PMID: 17566872 (2008), 23716950 (2012), 26005881 (2015), 29735907 (2018), 30476289 (2019), 32824452 (2020), 33738724 (2021), 34606655 (2021), 35098403 (2022)). However, individuals homozygous for this variant have been reported as being unaffected by FMF (PMID: 32401353 (2020)). Therefore, the A744S variant could be a variant with a mild effect on pyrin function or it could be a benign variant. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
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Pathogenic
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000629039.9
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 744 of the MEFV protein (p.Ala744Ser). … (more)
This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 744 of the MEFV protein (p.Ala744Ser). This variant is present in population databases (rs61732874, gnomAD 1.3%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with MEFV-related conditions (PMID: 17566872, 19449169, 19934083, 20177433, 23031807, 25793047, 26843738). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2548). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Nov 10, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604174.10
First in ClinVar: Sep 30, 2017 Last updated: Feb 20, 2024 |
Comment:
The MEFV c.2230G>T; p.Ala744Ser variant (rs61732874) is reported as a common pathogenic variant in the literature, and is present in multiple individuals affected with Familial … (more)
The MEFV c.2230G>T; p.Ala744Ser variant (rs61732874) is reported as a common pathogenic variant in the literature, and is present in multiple individuals affected with Familial Mediterranean Fever (Beheshtian 2016, Habahbeh 2015, Salehzadeh 2015, Touitou 2001). This variant is listed as pathogenic by multiple laboratories in ClinVar (Variation ID: 2548), and is found in the general population with an overall allele frequency of 0.18% (499/282,842 alleles, including 2 homozygotes) in the Genome Aggregation Database. Based on available information, the p.Ala744Ser variant is considered to be pathogenic. REFERENCES Beheshtian M et al. Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. J Genet. 2016 Sep;95(3):667-74. Habahbeh LA et al. Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC). Med Arch. 2015 Dec;69(6):417-20. Salehzadeh F et al. MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever. Iran J Med Sci. 2015 Jan;40(1):68-72. Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 2001 9(7):473-83. (less)
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Pathogenic
(Feb 24, 2024)
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criteria provided, single submitter
Method: clinical testing
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MEFV-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004121107.2
First in ClinVar: Nov 20, 2023 Last updated: Mar 16, 2024 |
Comment:
The MEFV c.2230G>T variant is predicted to result in the amino acid substitution p.Ala744Ser. This variant has been reported in the heterozygous, compound heterozygous, and … (more)
The MEFV c.2230G>T variant is predicted to result in the amino acid substitution p.Ala744Ser. This variant has been reported in the heterozygous, compound heterozygous, and homozygous states in multiple individuals with familial Mediterranean fever (Bernot et al. 1998. PubMed ID: 9668175; Giaglis et al. 2007. PubMed ID: 17489852; Gattorno et al. 2009. PubMed ID: 19786432; Rodriguez-Flores et al. 2013. PubMed ID: 24123366; Salehzadeh et al. 2015. PubMed ID: 25648235; Stella et al. 2019. PubMed ID: 30476289; Umar et al. 2020. PubMed ID: 32853466; Fathalla et al. 2021. PubMed ID: 33440462; Sari et al. 2021. PubMed ID: 33726481). However, this variant has also been reported in the heterozygous state in healthy control populations (Aldea et al. 2004. PubMed ID: 15024744; Table 7, John et al. 2018. PubMed ID: 30409984; Alsubaie et al. 2020. PubMed ID: 32401353). This variant is reported in 1.3% of alleles in individuals of Ashkenazi Jewish descent in gnomAD and has been observed at a frequency of 4.2% in an Arabic population study (Alsubaie et al. 2020. PubMed ID: 32401353). Based on the reported allele frequency, this variant is potentially more common than expected for a causative variant. Of note, two homozygotes were observed in gnomAD and a few other homozygous asymptomatic individuals have been reported in the literature (Alsubaie et al. 2020. PubMed ID: 32401353; John et al. 2018. PubMed ID: 30409984). This may indicate this variant has reduced penetrance or variable expressivity in the homozygous state. An in vitro experimental study suggests this variant does not impact protein function (Honda et al. 2021. PubMed ID: 33733382). Of note, this variant has been reported as a variant of uncertain significance in the Infevers database (https://infevers.umai-montpellier.fr/web/index.php; Van Gijn et al. 2018. PubMed ID: 29599418). In ClinVar, the interpretation regarding the pathogenicity of this variant ranges from pathogenic to likely pathogenic to uncertain significance (https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/clinvar/variation/2548/), however the majority of submissions favor pathogenicity. Taken together, we interpret this variant as pathogenic for autosomal recessive MEFV-related disorders. (less)
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Uncertain Significance
(Aug 10, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004847547.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: infevers VUS, variant aa present in at least 3 mammals (2 primates). … (more)
Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: infevers VUS, variant aa present in at least 3 mammals (2 primates). I keep it as VUS simply because eof the numerous reports, however the conservation data as well as frequency in Arab population make it unlikely to be clinically significant. ACMG/AMP Criteria applied: BP4_strong. (less)
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Pathogenic
(Aug 01, 1998)
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no assertion criteria provided
Method: literature only
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FAMILIAL MEDITERRANEAN FEVER
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000022815.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
In an Armenian family with familial Mediterranean fever (FMF; 249100), Bernot et al. (1998) observed a G-to-T transversion in exon 10 of the MEFV gene, … (more)
In an Armenian family with familial Mediterranean fever (FMF; 249100), Bernot et al. (1998) observed a G-to-T transversion in exon 10 of the MEFV gene, resulting in an ala744-to-ser (A744S) substitution. The mutation was not found in 198 control chromosomes. (less)
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001970602.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001462092.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001929688.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001962934.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Uncertain significance
(Aug 25, 2021)
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no assertion criteria provided
Method: clinical testing
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Familial Mediterranean fever, autosomal dominant
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
Accession: SCV002011780.1
First in ClinVar: Nov 06, 2021 Last updated: Nov 06, 2021 |
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not provided
(-)
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no classification provided
Method: not provided
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Familial Mediterranean fever
Affected status: not provided
Allele origin:
not provided
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Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115851.1
First in ClinVar: Mar 06, 2014 Last updated: Mar 06, 2014 |
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not provided
(-)
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no classification provided
Method: literature only
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Familial Mediterranean fever
Affected status: yes
Allele origin:
germline
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GeneReviews
Accession: SCV000484973.2
First in ClinVar: Dec 06, 2016 Last updated: Oct 01, 2022 |
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Pathogenic
(Oct 04, 2020)
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Flagged submission
flagged submission
Method: clinical testing
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV001448268 appears to be redundant with SCV002818146.
(less)
Notes: SCV001448268 appears to
(...more)
Source: NCBI
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Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Affected status: yes
Allele origin:
germline
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Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
Accession: SCV001448268.1
First in ClinVar: Dec 07, 2020 Last updated: Dec 07, 2020 |
Sex: male
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Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
MEFV gene allele frequency and genotype distribution in 3230 patients' analyses by next generation sequencing methods. | Kırnaz B | Gene | 2022 | PMID: 35358658 |
Dynamic disequilibrium-based pathogenicity model in mutated pyrin's B30.2 domain-Casp1/p20 complex. | Fayez AG | Journal, genetic engineering & biotechnology | 2022 | PMID: 35190906 |
Features predicting colchicine efficacy in treatment of children with undefined systemic autoinflammatory disease: A retrospective cohort study. | Marques MC | European journal of rheumatology | 2022 | PMID: 35156637 |
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium. | Dundar M | Functional & integrative genomics | 2022 | PMID: 35098403 |
Late-onset familial mediterranean fever: single-center experience and literature review. | Aydin O | Internal and emergency medicine | 2022 | PMID: 35061158 |
Predictors of persistent inflammation in children with familial Mediterranean fever. | Gezgin Yıldırım D | Modern rheumatology | 2022 | PMID: 34918114 |
Assessment of vascular damage in children and young adults with Familial Mediterranean Fever. | Vampertzi O | Rheumatology international | 2022 | PMID: 34739572 |
Comparison of Anaerobic Exercise Capacity in Children With Familial Mediterranean Fever and Healthy Controls. | Turkucar S | Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases | 2022 | PMID: 34665572 |
Refractory hemophagocytic lymphohistiocytosis in an adult patient with occult ALK-Positive anaplastic large cell lymphoma and a heterozygous MEFV mutation. | Tariq H | Leukemia & lymphoma | 2022 | PMID: 34612144 |
The analysis of genotype-phenotype correlation in familial Mediterranean fever. | Ozturk K | Pediatrics international : official journal of the Japan Pediatric Society | 2022 | PMID: 34606655 |
The genetic structure of the Turkish population reveals high levels of variation and admixture. | Kars ME | Proceedings of the National Academy of Sciences of the United States of America | 2021 | PMID: 34426522 |
Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings. | Arpacı A | Molecular biology reports | 2021 | PMID: 33738724 |
Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance. | Sarı A | Turkish journal of medical sciences | 2021 | PMID: 33726481 |
The genomic landscape of pediatric rheumatology disorders in the Middle East. | Fathalla BM | Human mutation | 2021 | PMID: 33440462 |
Twenty-Year Experience of a Single Referral Center on Pediatric Familial Mediterranean Fever: What Has Changed Over the Last Decade? | Kisla Ekinci RM | Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases | 2021 | PMID: 31693653 |
Familial Mediterranean Fever: Clinical State Of The Art. | Egeli BH | QJM : monthly journal of the Association of Physicians | 2020 | PMID: 33079202 |
Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling. | Umar M | Journal of cellular and molecular medicine | 2020 | PMID: 32853466 |
Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon. | El Roz A | Medical sciences (Basel, Switzerland) | 2020 | PMID: 32824452 |
Differential mutational profiles of familial Mediterranean fever in North Africa. | Ait-Idir D | Annals of human genetics | 2020 | PMID: 32818295 |
The importance of Mediterranean fever gene in familial Mediterranean fever. | Kehribar DY | European journal of rheumatology | 2020 | PMID: 32716837 |
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database. | Alsubaie L | Annals of human genetics | 2020 | PMID: 32401353 |
Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever. | Accetturo M | Rheumatology (Oxford, England) | 2020 | PMID: 31411330 |
MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea. | Salehzadeh F | Genetics research international | 2019 | PMID: 31531243 |
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. | Karacan İ | Rheumatology international | 2019 | PMID: 30783801 |
The application of precision medicine in diagnosing familial Mediterranean fever. | Glynn S | Leukemia & lymphoma | 2019 | PMID: 30698071 |
Familial Mediterranean Fever. | Ozdogan H | Presse medicale (Paris, France : 1983) | 2019 | PMID: 30686512 |
MEFV gene variants in children with Henoch-Schönlein purpura and association with clinical manifestations: a single-center Mediterranean experience. | Ekinci RMK | Postgraduate medicine | 2019 | PMID: 30513227 |
Familial Mediterranean fever: breaking all the (genetic) rules. | Stella A | Rheumatology (Oxford, England) | 2019 | PMID: 30476289 |
High-frequency actionable pathogenic exome variants in an average-risk cohort. | Rego S | Cold Spring Harbor molecular case studies | 2018 | PMID: 30487145 |
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. | John SE | Scientific reports | 2018 | PMID: 30409984 |
A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade. | Al-Khafaji J | Case reports in rheumatology | 2018 | PMID: 29808155 |
MEFV gene mutations and clinical course in pediatric patients with Henoch-Schönlein purpura. | Can E | Archivos argentinos de pediatria | 2018 | PMID: 29756710 |
The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T). | Gumus E | Journal of clinical medicine | 2018 | PMID: 29735907 |
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). | Van Gijn ME | Journal of medical genetics | 2018 | PMID: 29599418 |
Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever. | Kriegshäuser G | Genetics in medicine : official journal of the American College of Medical Genetics | 2018 | PMID: 29543225 |
Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance? | Procopio V | Gene | 2018 | PMID: 29080837 |
TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis. | Blaschek A | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2018 | PMID: 28927886 |
A novel cluster of patients with Familial Mediterranean Fever (FMF) in southern Italy. | Bonfrate L | European journal of clinical investigation | 2017 | PMID: 28678379 |
R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever. | Fentoğlu Ö | Journal of periodontal research | 2017 | PMID: 28590056 |
Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis. | Huzmeli C | Clinical rheumatology | 2017 | PMID: 28573371 |
MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever. | Cekin N | Gene | 2017 | PMID: 28483595 |
Revisiting the morbid genome of Mendelian disorders. | Abouelhoda M | Genome biology | 2016 | PMID: 27884173 |
Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. | Beheshtian M | Journal of genetics | 2016 | PMID: 27659338 |
Could familial Mediterranean fever gene mutations be related to PFAPA syndrome? | Celiksoy MH | Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology | 2016 | PMID: 26360812 |
Familial Mediterranean Fever. | Adam MP | - | 2016 | PMID: 20301405 |
Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC). | Habahbeh LA | Medical archives (Sarajevo, Bosnia and Herzegovina) | 2015 | PMID: 26843738 |
MEFV mutations in Northwest of Iran: a cross sectional study. | Bonyadi MJ | Iranian journal of basic medical sciences | 2015 | PMID: 25810876 |
MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever. | Salehzadeh F | Iranian journal of medical sciences | 2015 | PMID: 25648235 |
Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. | Neocleous V | Annals of human genetics | 2015 | PMID: 25393764 |
PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience. | Salehzadeh F | Iranian journal of pediatrics | 2014 | PMID: 25793047 |
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. | Rodriguez-Flores JL | Human mutation | 2014 | PMID: 24123366 |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. | Moradian MM | Genetics in medicine : official journal of the American College of Medical Genetics | 2014 | PMID: 23907647 |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | Lazarin GA | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22975760 |
Renal amyloidosis due to familial mediterranean fever misdiagnosed. | Hama I | Indian journal of human genetics | 2012 | PMID: 23716950 |
Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population. | Lainka E | European journal of pediatrics | 2012 | PMID: 22903357 |
Guidelines for the genetic diagnosis of hereditary recurrent fevers. | Shinar Y | Annals of the rheumatic diseases | 2012 | PMID: 22661645 |
Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey. | Ceylan GG | Genetics and molecular research : GMR | 2012 | PMID: 22614345 |
MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever. | Belmahi L | Rheumatology international | 2012 | PMID: 21246368 |
Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population. | Ait-Idir D | Rheumatology (Oxford, England) | 2011 | PMID: 22019805 |
Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever. | Kilim Y | The Israel Medical Association journal : IMAJ | 2011 | PMID: 21598806 |
Mediterranean fever (MEFV) gene mutation frequency is not increased in adults with rheumatic heart disease. | Simsek I | Clinical rheumatology | 2011 | PMID: 20645115 |
Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers. | Ozdemir O | Molecular biology reports | 2011 | PMID: 20165923 |
1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. | Medlej-Hashim M | BMC medical genetics | 2010 | PMID: 20534143 |
Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey. | Etem EO | The open rheumatology journal | 2010 | PMID: 20177433 |
Familial Mediterranean fever in Ashkenazi Jews: the mild end of the clinical spectrum. | Lidar M | The Journal of rheumatology | 2010 | PMID: 20008924 |
MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study. | Caglayan AO | Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2010 | PMID: 19934083 |
MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations. | el-Garf A | Rheumatology international | 2010 | PMID: 19777236 |
MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. | Akin H | Molecular biology reports | 2010 | PMID: 19449169 |
Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation. | Jarjour RA | Molecular biology reports | 2010 | PMID: 19253030 |
Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels. | Feng J | PloS one | 2009 | PMID: 20041150 |
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever. | Bonyadi M | Clinical genetics | 2009 | PMID: 19863562 |
Differentiating PFAPA syndrome from monogenic periodic fevers. | Gattorno M | Pediatrics | 2009 | PMID: 19786432 |
Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). | Masters SL | Annual review of immunology | 2009 | PMID: 19302049 |
Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations. | Mikula M | Genetics in medicine : official journal of the American College of Medical Genetics | 2008 | PMID: 18496034 |
MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center. | Sabbagh AS | Molecular biology reports | 2008 | PMID: 17566872 |
MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. | Giaglis S | Clinical genetics | 2007 | PMID: 17489852 |
MEFV mutations in Tunisian patients suffering from familial Mediterranean fever. | Chaabouni HB | Seminars in arthritis and rheumatism | 2007 | PMID: 17276496 |
Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF). | Goulielmos GN | Biochemical and biophysical research communications | 2006 | PMID: 16730661 |
Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect? | Giaglis S | Digestive diseases and sciences | 2006 | PMID: 16614989 |
Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. | Belmahi L | Comptes rendus biologies | 2006 | PMID: 16439335 |
The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus. | Aldea A | Human mutation | 2004 | PMID: 15024744 |
Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations. | Tchernitchko D | Clinical chemistry | 2003 | PMID: 14578331 |
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients. | Medlej-Hashim M | Human mutation | 2000 | PMID: 10737992 |
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. | Aksentijevich I | American journal of human genetics | 1999 | PMID: 10090880 |
Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. | Samuels J | Medicine | 1998 | PMID: 9715731 |
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). | Bernot A | Human molecular genetics | 1998 | PMID: 9668175 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MEFV | - | - | - | - |
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Text-mined citations for rs61732874 ...
HelpRecord last updated Jun 02, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.