ClinVar Genomic variation as it relates to human health
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
Variation ID: 48093 Accession: VCV000048093.39
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q22 1: 156135913 (GRCh38) [ NCBI UCSC ] 1: 156105704 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Oct 19, 2013 May 1, 2024 Jan 18, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_170707.4:c.949G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_733821.1:p.Glu317Lys missense NM_005572.4:c.949G>A MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_005563.1:p.Glu317Lys missense NM_001257374.3:c.613G>A NP_001244303.1:p.Glu205Lys missense NM_001282624.2:c.706G>A NP_001269553.1:p.Glu236Lys missense NM_001282625.2:c.949G>A NP_001269554.1:p.Glu317Lys missense NM_001282626.2:c.949G>A NP_001269555.1:p.Glu317Lys missense NM_170708.4:c.949G>A NP_733822.1:p.Glu317Lys missense NC_000001.11:g.156135913G>A NC_000001.10:g.156105704G>A NG_008692.2:g.58341G>A LRG_254:g.58341G>A LRG_254t2:c.949G>A P02545:p.Glu317Lys - Protein change
- E317K, E236K, E205K
- Other names
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- Canonical SPDI
- NC_000001.11:156135912:G: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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
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
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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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LMNA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1821 | 2098 |
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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Likely pathogenic (1) |
criteria provided, single submitter
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Sep 9, 2022 | RCV000041379.6 | |
Pathogenic/Likely pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Aug 29, 2022 | RCV000057489.16 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 18, 2024 | RCV000560270.8 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jun 27, 2016 | RCV000769726.2 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Sep 25, 2018 | RCV001000784.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 2, 2023 | RCV001251293.2 | |
Pathogenic (2) |
criteria provided, single submitter
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Apr 22, 2022 | RCV001775075.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 10, 2023 | RCV002371856.3 | |
LMNA-related disorder
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Pathogenic (1) |
criteria provided, single submitter
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Oct 18, 2023 | RCV004541210.1 |
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
(Aug 29, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000234687.7
First in ClinVar: Sep 26, 2017 Last updated: Mar 04, 2023 |
Comment:
Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; … (more)
Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27532257, 25469153, 34768595, 18926329, 12898247, 11897440, 19318026, 28759816, 28679633, 30420677, 21846512, 10939567, 31514951, 30287275, 32686758, 32160020, 24503780, 34862408, 34616814, 34773379) (less)
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Likely Pathogenic
(Sep 09, 2022)
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criteria provided, single submitter
Method: clinical testing
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Primary dilated cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000065072.6
First in ClinVar: May 03, 2013 Last updated: Apr 20, 2024 |
Comment:
The p.Glu317Lys variant in LMNA has been reported in at least 5 individuals with DCM and arrhythmia (atrioventricular (AV) block) and in 2 individuals with … (more)
The p.Glu317Lys variant in LMNA has been reported in at least 5 individuals with DCM and arrhythmia (atrioventricular (AV) block) and in 2 individuals with DCM and segregated with disease in at least 3 affected relatives from 3 families (Arbustini 2002 PMID: 11897440, Pasotti 2008 PMID: 18926329, Millat 2009 PMID: 19318026, Morales 2020 PMID: 32160020, LMM data). This variant has also been identified in 1 individual with AV block and a family history of sudden cardiac death (LMM data) and in a large family with isolated AV block, including one proband and 5 segregations (Villa 2014 PMID: 25469153). This variant has been reported by other clinical laboratories in ClinVar (Variation ID 48093) and has also been identified in 0.001% (1/68028) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1). Computational prediction tools and conservation analysis suggest that this variant may impact the protein. Variants in LMNA are prevalent in individuals with DCM and conduction system disease/arrhythmia and the presence of conduction system disease in the majority of affected individuals with this variant increases the likelihood that it is pathogenic. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant DCM. ACMG/AMP Criteria applied: PS4_Moderate, PP1_Moderate, PP3, PM2_Supporting. (less)
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Pathogenic
(Aug 10, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002688218.3
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.E317K pathogenic mutation (also known as c.949G>A), located in coding exon 6 of the LMNA gene, results from a G to A substitution at … (more)
The p.E317K pathogenic mutation (also known as c.949G>A), located in coding exon 6 of the LMNA gene, results from a G to A substitution at nucleotide position 949. The glutamic acid at codon 317 is replaced by lysine, an amino acid with similar properties. This alteration has been reported in multiple individuals with dilated cardiomyopathy and/or atrioventricular block (AVB) or other arrhythmia, and has shown strong segregation with disease in a large Italian family with AVB (Arbustini E et al. J. Am. Coll. Cardiol. 2002;39:981-90; Pasotti M et al. J. Am. Coll. Cardiol. 2008;52:1250-60; Millat G et al. Eur J Med Genet. 2011;54:e570-5; Pugh TJ et al. Genet. Med. 2014;16:601-8; Villa F et al. Immun Ageing. 2014;11:19; Walsh R et al. Genet. Med., 2017 02;19:192-203; Captur G et al. Eur. J. Heart Fail., 2018 10;20:1413-1416; Kwapich M et al. Diabetes Metab., 2019 09;45:382-389; van Tienen FHJ et al. Eur. J. Hum. Genet., 2019 03;27:389-399). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Apr 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics
Accession: SCV001880742.1
First in ClinVar: Sep 19, 2021 Last updated: Sep 19, 2021 |
Comment:
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical … (more)
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical features associated with this gene. This variant segregates with disease in at least one family. Computational tools predict that this variant is damaging. (less)
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Likely pathogenic
(Jun 27, 2016)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000901147.1 First in ClinVar: May 06, 2019 Last updated: May 06, 2019 |
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Likely pathogenic
(Sep 25, 2018)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001157842.1
First in ClinVar: Feb 10, 2020 Last updated: Feb 10, 2020 |
Comment:
The LMNA c.949G>A; p.Glu317Lys variant (rs56816490), is reported in the literature in multiple individuals and families affected with dilated cardiomyopathies (DCM) and atrioventricular block with … (more)
The LMNA c.949G>A; p.Glu317Lys variant (rs56816490), is reported in the literature in multiple individuals and families affected with dilated cardiomyopathies (DCM) and atrioventricular block with DCM (Arbustini 2002, Millat 2009, Pasotti 2008, Villa 2014, Walsh 2017). This variant is reported as pathogenic/likely pathogenic by multiple laboratories in ClinVar (Variation ID: 48093) and is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The glutamic acid at codon 317 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, the p.Glu317Lys variant is considered to be likely pathogenic. References: Arbustini E et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol. 2002 Mar 20;39(6):981-90. Millat G et al. Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene. Clin Biochem. 2009 Jun;42(9):892-8. Pasotti M et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol. 2008 Oct 7;52(15):1250-60. Villa F et al. A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. Immun Ageing. 2014 Nov 26;11(1):19. Walsh R et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017 Feb;19(2):192-203. (less)
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Likely pathogenic
(Jun 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: yes
Allele origin:
germline
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AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002503106.1
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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Pathogenic
(Apr 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1A
Affected status: unknown
Allele origin:
germline
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New York Genome Center
Accession: SCV003925444.1
First in ClinVar: May 20, 2023 Last updated: May 20, 2023 |
Comment:
The c.949G>A variant has previously been reported in individuals with dilated cardiomyopathy [PMID: 34768595, 32686758, 32160020, 31514951, 21846512,27532257]. The variant has also been identified in … (more)
The c.949G>A variant has previously been reported in individuals with dilated cardiomyopathy [PMID: 34768595, 32686758, 32160020, 31514951, 21846512,27532257]. The variant has also been identified in multiple individuals with dilated cardiomyopathy with atrioventricular block [PMID: 11897440, 25469153]. Moreover, this variant has been shown to segregate with the isolated atrioventricular block in a large family [PMID: 25469153] and it has been deposited in ClinVar [ClinVar ID:48093] as Pathogenic and Likely Pathogenic by multiple submitters. The c.949G>A variant is observed in 4 alleles (0.00086% minor allele frequency with 0 homozygotes) in population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.949G>A variant is located in exon 6 of this 12-exon gene and is predicted to replace an evolutionarily conserved glutamic acid amino acidwith lysine at position 317 in the coil 2B domain of the encoded protein. In silico predictions are in favor of damaging effect for (p.Glu317Lys) (CADD v1.6 = 34, REVEL =0.873); however, there are no functional studies to support or refute these predictions. Based on available evidence this c.949G>A (p.Glu317Lys) variant identified in LMNA is classified here as Pathogenic. (less)
Clinical Features:
Congestive heart failure (present)
Secondary finding: no
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Pathogenic
(Oct 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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Primary familial dilated cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001426830.2
First in ClinVar: Aug 09, 2020 Last updated: Nov 20, 2023 |
Comment:
Variant summary: LMNA c.949G>A (p.Glu317Lys) results in a conservative amino acid change located in the Intermediate filament, rod domain (IPR039008) of the encoded protein sequence. … (more)
Variant summary: LMNA c.949G>A (p.Glu317Lys) results in a conservative amino acid change located in the Intermediate filament, rod domain (IPR039008) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248396 control chromosomes (gnomAD). c.949G>A has been reported in the literature in multiple individuals and families affected with Dilated Cardiomyopathy (DCM) or DCM and atrioventricular block (AVB) or AVB alone; co-segregation with disease was documented within different families (e.g. Arbustini_2002, Pasotti_2008, Millat_2011, Villa_2014, Walsh_2017). The following publications have been ascertained in the context of this evaluation (PMID: 11897440, 21846512, 18926329, 25469153, 27532257). Nine submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jan 18, 2024)
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criteria provided, single submitter
Method: clinical testing
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Charcot-Marie-Tooth disease type 2
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000657829.8
First in ClinVar: Dec 26, 2017 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 317 of the LMNA protein … (more)
This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 317 of the LMNA protein (p.Glu317Lys). This variant is present in population databases (rs56816490, gnomAD 0.007%). This missense change has been observed in individuals with dilated cardiomyopathy (PMID: 11897440, 21846512, 25469153, 27532257; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 48093). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LMNA protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 18, 2023)
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criteria provided, single submitter
Method: clinical testing
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LMNA-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004771965.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The LMNA c.949G>A variant is predicted to result in the amino acid substitution p.Glu317Lys. This variant has been reported in multiple individuals with dilated cardiomyopathy … (more)
The LMNA c.949G>A variant is predicted to result in the amino acid substitution p.Glu317Lys. This variant has been reported in multiple individuals with dilated cardiomyopathy or atrioventricular blockage and has also segregated within families (Table 1, Arbustini et al. 2002. PubMed ID: 11897440; Figure 1, Villa et al. 2014. PubMed ID: 25469153; Figure 2, Ferradini et al. 2021. PubMed ID: 34768595). This variant has been reported as a possible Italian founder variant (Ferradini et al. 2021. PubMed ID: 34768595). This variant is reported in 0.0065% of alleles in individuals of European (non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-156105704-G-A). This variant is interpreted as pathogenic for autosomal dominant LMNA-related disorders. (less)
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Likely pathogenic
(-)
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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: SCV001932491.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Pathogenic
(Apr 27, 2021)
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no assertion criteria provided
Method: clinical testing
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CARDIOMYOPATHY, DILATED, 1A
Affected status: yes
Allele origin:
germline
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Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University
Accession: SCV001593109.1
First in ClinVar: Nov 11, 2021 Last updated: Nov 11, 2021 |
Number of individuals with the variant: 5
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Likely pathogenic
(-)
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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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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742448.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Pathogenic
(-)
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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, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001920681.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Likely pathogenic
(-)
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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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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001951554.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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not provided
(-)
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no classification provided
Method: not provided
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not provided
Affected status: not provided
Allele origin:
not provided
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Epithelial Biology; Institute of Medical Biology, Singapore
Accession: SCV000088603.1
First in ClinVar: Oct 19, 2013 Last updated: Oct 19, 2013 |
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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 |
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Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study. | Morales A | Circulation. Genomic and precision medicine | 2020 | PMID: 32160020 |
Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy. | Gigli M | Journal of the American College of Cardiology | 2019 | PMID: 31514951 |
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy. | Peretto G | Annals of internal medicine | 2019 | PMID: 31476771 |
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants. | van Tienen FHJ | European journal of human genetics : EJHG | 2019 | PMID: 30420677 |
Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation. | Kwapich M | Diabetes & metabolism | 2019 | PMID: 30287275 |
Lamin missense mutations-the spectrum of phenotype variability is increasing. | Captur G | European journal of heart failure | 2018 | PMID: 30178466 |
Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy. | Te Rijdt WP | Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology | 2017 | PMID: 28759816 |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | Walsh R | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 27532257 |
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. | Villa F | Immunity & ageing : I & A | 2014 | PMID: 25469153 |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. | Millat G | European journal of medical genetics | 2011 | PMID: 21846512 |
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene. | Millat G | Clinical biochemistry | 2009 | PMID: 19318026 |
Long-term outcome and risk stratification in dilated cardiolaminopathies. | Pasotti M | Journal of the American College of Cardiology | 2008 | PMID: 18926329 |
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. | Arbustini E | Journal of the American College of Cardiology | 2002 | PMID: 11897440 |
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Text-mined citations for rs56816490 ...
HelpRecord last updated Jun 10, 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.