ClinVar Genomic variation as it relates to human health
NC_012920.1:m.1494C>T
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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NC_012920.1:m.1494C>T
Variation ID: 9632 Accession: VCV000009632.17
- Type and length
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single nucleotide variant, 1 bp
- Location
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MT: 1494 (GRCh38) [ NCBI UCSC ] MT: 1494 (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 May 22, 2016 Oct 15, 2022 Jul 11, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNC_012920.1:m.1494C>T - Protein change
- Other names
- m.1494C>T
- C1494T
- 1494C-T
- Canonical SPDI
- NC_012920.1:1493:C:T
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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.
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- Links
- ClinGen: CA254847
- Genetic Testing Registry (GTR): GTR000500593
- Genetic Testing Registry (GTR): GTR000556807
- Genetic Testing Registry (GTR): GTR000591967
- Genetic Testing Registry (GTR): GTR000591969
- Genetic Testing Registry (GTR): GTR000591975
- Genetic Testing Registry (GTR): GTR000591976
- Genetic Testing Registry (GTR): GTR000613136
- OMIM: 561000.0004
- dbSNP: rs267606619
- VarSome
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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MT-RNR1 | - | - | GRCh38 | 75 | 78 | |
MT-TS1 | - | - | GRCh38 | 29 | 41 |
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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Pathogenic; drug response (2) |
no assertion criteria provided
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Nov 8, 2018 | RCV000010262.14 | |
Pathogenic (2) |
no assertion criteria provided
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Feb 10, 2006 | RCV000010263.14 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jul 3, 2020 | RCV001449811.12 | |
drug response (1) |
reviewed by expert panel
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Jun 15, 2021 | RCV001787386.9 | |
drug response (1) |
reviewed by expert panel
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Jun 15, 2021 | RCV001787383.9 | |
drug response (1) |
reviewed by expert panel
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Jun 15, 2021 | RCV001787385.9 | |
Likely pathogenic (1) |
reviewed by expert panel
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Jul 11, 2022 | RCV002291211.8 | |
drug response (1) |
criteria provided, single submitter
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Aug 1, 2018 | RCV000722075.10 | |
drug response (1) |
reviewed by expert panel
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Jun 15, 2021 | RCV001787322.9 | |
drug response (1) |
reviewed by expert panel
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Jun 15, 2021 | RCV001787384.9 |
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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drug response
(Jun 15, 2021)
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reviewed by expert panel
Method: curation
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aminoglycoside antibacterials response - Toxicity
Drug used for
Ototoxicity
Affected status: yes
Allele origin:
germline
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PharmGKB
Accession: SCV000268278.4
First in ClinVar: May 22, 2016 Last updated: Dec 12, 2021 |
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more)
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
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drug response
(Jun 15, 2021)
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reviewed by expert panel
Method: curation
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gentamicin response - Toxicity
Drug used for
Ototoxicity
Affected status: yes
Allele origin:
germline
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PharmGKB
Accession: SCV002031234.1
First in ClinVar: Dec 12, 2021 Last updated: Dec 12, 2021 |
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more)
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
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drug response
(Jun 15, 2021)
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reviewed by expert panel
Method: curation
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kanamycin response - Toxicity
Drug used for
Ototoxicity
Affected status: yes
Allele origin:
germline
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PharmGKB
Accession: SCV002031235.1
First in ClinVar: Dec 12, 2021 Last updated: Dec 12, 2021 |
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more)
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
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drug response
(Jun 15, 2021)
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reviewed by expert panel
Method: curation
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streptomycin response - Toxicity
Drug used for
Ototoxicity
Affected status: yes
Allele origin:
germline
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PharmGKB
Accession: SCV002031236.1
First in ClinVar: Dec 12, 2021 Last updated: Dec 12, 2021 |
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more)
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
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drug response
(Jun 15, 2021)
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reviewed by expert panel
Method: curation
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tobramycin response - Toxicity
Drug used for
Ototoxicity
Affected status: yes
Allele origin:
germline
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PharmGKB
Accession: SCV002031237.1
First in ClinVar: Dec 12, 2021 Last updated: Dec 12, 2021 |
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more)
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
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Likely pathogenic
(Jul 11, 2022)
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reviewed by expert panel
Method: curation
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Mitochondrial disease
(Mitochondrial inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen
Accession: SCV002583531.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
Comment:
The m.1494C>T variant in the MT-RNR1 gene has been reported in >16 unrelated individuals with primary mitochondrial disease with non-syndromic hearing loss with and without … (more)
The m.1494C>T variant in the MT-RNR1 gene has been reported in >16 unrelated individuals with primary mitochondrial disease with non-syndromic hearing loss with and without aminoglycoside exposure. All were homoplasmic for the variant with the exception of one case who was heteroplasmic at 85.1% in blood (PS4; PMIDs: 34467602, 20100600, 17084680, 16380089, 17434445, 17698299, 17698030, 30693673, 14681830). Given the homoplasmic nature of this variant, familial segregation cannot be applied for PP1. There are no reports of de novo occurrences to our knowledge. This variant occurs in a highly conserved area and forms U1494-1555A base pair which is in the same position of the C1494-1555G pair created in a well-known pathogenic variant m.1555A>G (PM5_supporting; PMID: 14681830). Cybrid studies support the functional impact of this variant. Compared to control cybrids, there was a decrease in mitochondrial protein synthesis and high concentration of paromomycin in cybrids derived from three symptomatic and two asymptomatic individuals carrying the m.1494C>T variant (PS3_supporting; PMID: 15722487). This variant is present in population databases (Mitomap's 51,863 sequences: AF=0.007%; Helix's 196,554 sequences: AF=0.021%; and gnomAD v3.1.2: AF=0.0023% as this is homoplasmic in 13 individuals and heteroplasmic in one individual). Given the frequency of this variant, it does not meet PM2 criterion. There is limited computational scoring for rRNA variants precluding PP3 criterion. In summary, this variant meets criteria to be classified as likely pathogenic for primary mitochondrial disease inherited in a mitochondrial manner. This classification was approved by the NICHD/NINDS U24 ClinGen Mitochondrial Disease Variant Curation Expert Panel on July 11, 2022. Mitochondrial DNA-specific ACMG/AMP criteria applied: PS3_supporting, PS4, PM5_supporting. (less)
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Likely pathogenic
(Jul 03, 2020)
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criteria provided, single submitter
Method: clinical testing
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Rare genetic deafness
(Mitochondrial inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV001653104.1
First in ClinVar: May 29, 2021 Last updated: May 29, 2021 |
Comment:
The m.1494C>T variant in MTRNR1 has been reported in the homoplasmic state in >20 Asian and 2 Spanish probands with hearing loss ranging from mild … (more)
The m.1494C>T variant in MTRNR1 has been reported in the homoplasmic state in >20 Asian and 2 Spanish probands with hearing loss ranging from mild to profound, with the majority having reported exposure to aminoglycoside antibiotics (Chen 2007, Ding 2016, Han 2007, Lu 2010, Rodriguez-Ballesteros 2006, Shen 2011, Wang 2006, Zhao 2004, Zhu 2009). Additionally, this variant segregated with hearing loss in many matrilinial relatives; however, a number of matrilinial relatives with the variant were not reported to have hearing loss with an average penetrance of 18% (range 0-77%) among different families (Barbarino 2016). Most of these non-penetrant relatives were reproted to not have aminoglycoside exposure. Additionally, a meta-analysis of case-control and cohort studies identified the variant at a higher frequency in patients with hearing loss who had been treated with aminoglycosides compared to untreated patients with hearing loss (1.1% vs. 0.056%, respectively, p=0.001). Furthermore, the meta-analysis also found that the m.1494C>T variant was associated with hearing loss and aminoglycoside treatment compared with controls (OR = 2.47 (1.04 - 3.91), p=0.001). The 1494T variant was also significantly associated with hearing loss independent of aminoglycoside use ( OR=1.19 (0.18-2.19), p=0.02). However, it should be noted that the confidence interval crossed or was close to 1 (Jing 2015). This variant is also reported in ClinVar by PharmGKB with evidence level 2B, indicating moderate level of an association for variant-drug combination; however without statistical significance and/or small effect sizes (ClinVar Variation ID: 9632) This variant has also been reported in 16% (1/6) of samples from haplogroup A6a, 0.84% (2/239) of samples from haplogroup D4j, and 0.08% (1/1202) of samples from haplogroup J1c (MitoMap; https://www.mitomap.org/MITOMAP). The nucleotide position at m.1494 is highly conserved through species. In summary, while further case-control studies are required to determine the effect size of this allele, the current data supports a classification of likely pathogenic for hearing loss, especially in the context of exposure to aminogylosides. (less)
Number of individuals with the variant: 1
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drug response
(Aug 01, 2018)
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criteria provided, single submitter
Method: curation
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Gentamicin response
Drug used for
Bacterial infection
, and Neonatal sepsis
Affected status: yes
Allele origin:
maternal
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Medical Genetics Summaries
Accession: SCV000853257.1
First in ClinVar: Nov 27, 2018 Last updated: Nov 27, 2018 |
Comment:
Individuals who have the m.1494C > T variant are at risk of gentamicin-induced hearing loss.
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Pathogenic
(Feb 10, 2006)
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no assertion criteria provided
Method: literature only
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DEAFNESS, AMINOGLYCOSIDE-INDUCED
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000030486.3
First in ClinVar: Apr 04, 2013 Last updated: Aug 27, 2017 |
Comment on evidence:
In studies of a large Chinese family with maternally transmitted aminoglycoside-induced (580000) and nonsyndromic deafness (500008), Zhao et al. (2004) identified a novel 1494C-T mutation … (more)
In studies of a large Chinese family with maternally transmitted aminoglycoside-induced (580000) and nonsyndromic deafness (500008), Zhao et al. (2004) identified a novel 1494C-T mutation in the MTRNR1 gene. In the absence of aminoglycosides, some matrilineal relatives exhibited late-onset/progressive deafness, with a wide range of severity and age at onset. Notably, the average age of onset of deafness changed from 55 years in generation II to 10 years in generation IV. Clinical data showed that the administration of aminoglycosides can induce or worsen deafness in matrilineal relatives. Zhao et al. (2004) suggested that the nuclear genetic background plays a role in the development of the deafness phenotype in this family since 31% of persons carrying the 1494C-T mutation developed hearing impairment when the effect of aminoglycosides was excluded, but 51% when aminoglycoside-induced deafness was included. Wang et al. (2006) reported a 4-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the 1494C-T mutation. The severity of hearing loss ranged from moderate to severe, and the age at onset of hearing loss in those without aminoglycoside exposure ranged from 2 to 31 years. All displayed loss at high frequencies. Incomplete penetrance indicates that the 1494C-T mutation is not sufficient to produce the clinical phenotype but requires the involvement of modifier factors for phenotypic expression. (less)
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Pathogenic
(Feb 10, 2006)
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no assertion criteria provided
Method: literature only
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DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000030487.3
First in ClinVar: Apr 04, 2013 Last updated: Aug 27, 2017 |
Comment on evidence:
In studies of a large Chinese family with maternally transmitted aminoglycoside-induced (580000) and nonsyndromic deafness (500008), Zhao et al. (2004) identified a novel 1494C-T mutation … (more)
In studies of a large Chinese family with maternally transmitted aminoglycoside-induced (580000) and nonsyndromic deafness (500008), Zhao et al. (2004) identified a novel 1494C-T mutation in the MTRNR1 gene. In the absence of aminoglycosides, some matrilineal relatives exhibited late-onset/progressive deafness, with a wide range of severity and age at onset. Notably, the average age of onset of deafness changed from 55 years in generation II to 10 years in generation IV. Clinical data showed that the administration of aminoglycosides can induce or worsen deafness in matrilineal relatives. Zhao et al. (2004) suggested that the nuclear genetic background plays a role in the development of the deafness phenotype in this family since 31% of persons carrying the 1494C-T mutation developed hearing impairment when the effect of aminoglycosides was excluded, but 51% when aminoglycoside-induced deafness was included. Wang et al. (2006) reported a 4-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the 1494C-T mutation. The severity of hearing loss ranged from moderate to severe, and the age at onset of hearing loss in those without aminoglycoside exposure ranged from 2 to 31 years. All displayed loss at high frequencies. Incomplete penetrance indicates that the 1494C-T mutation is not sufficient to produce the clinical phenotype but requires the involvement of modifier factors for phenotypic expression. (less)
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drug response
(Nov 08, 2018)
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no assertion criteria provided
Method: research
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Aminoglycoside-induced deafness
Affected status: no
Allele origin:
unknown
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Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV000993413.1
First in ClinVar: Sep 22, 2019 Last updated: Sep 22, 2019 |
Number of individuals with the variant: 1
Sex: male
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not provided
(-)
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no classification provided
Method: literature only
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Mitochondrial non-syndromic sensorineural hearing loss
Affected status: unknown
Allele origin:
maternal
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GeneReviews
Accession: SCV000914173.2
First in ClinVar: May 20, 2019 Last updated: Oct 01, 2022 |
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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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Nonsyndromic Hearing Loss and Deafness, Mitochondrial. | Adam MP | - | 2018 | PMID: 20301595 |
The Mitochondrial COI/tRNA(SER(UCN)) G7444A Mutation may be Associated with Hearing Impairment in a Han Chinese Family. | Y D | Balkan journal of medical genetics : BJMG | 2017 | PMID: 29876232 |
PharmGKB summary: very important pharmacogene information for MT-RNR1. | Barbarino JM | Pharmacogenetics and genomics | 2016 | PMID: 27654872 |
Allele-specific PCR for detecting the deafness-associated mitochondrial 12S rRNA mutations. | Ding Y | Gene | 2016 | PMID: 27397648 |
Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis. | Jing W | Journal of medical genetics | 2015 | PMID: 25515069 |
Aminoglycoside stress together with the 12S rRNA 1494C>T mutation leads to mitophagy. | Yu J | PloS one | 2014 | PMID: 25474306 |
Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics. | Shen Z | Journal of translational medicine | 2011 | PMID: 21205314 |
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. | Guan MX | Mitochondrion | 2011 | PMID: 21047563 |
Genetic mutations and aminoglycoside-induced ototoxicity in neonates. | Johnson RF | Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery | 2010 | PMID: 20416460 |
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. | Lu J | Mitochondrion | 2010 | PMID: 20100600 |
Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation. | Zhu Y | Mitochondrion | 2009 | PMID: 19682603 |
Frequency of mitochondrial 12S ribosomal RNA variants in an adult cystic fibrosis population. | Conrad DJ | Pharmacogenetics and genomics | 2008 | PMID: 18830133 |
Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. | Chen J | Gene | 2007 | PMID: 17698299 |
Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss. | Yuan H | Biochemical and biophysical research communications | 2007 | PMID: 17698030 |
The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss. | Han D | Biochemical and biophysical research communications | 2007 | PMID: 17434445 |
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene. | Rodríguez-Ballesteros M | Journal of medical genetics | 2006 | PMID: 17085680 |
Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation. | Wang Q | Biochemical and biophysical research communications | 2006 | PMID: 16380089 |
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. | Zhao H | American journal of human genetics | 2004 | PMID: 14681830 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/fdc4a548-d997-49c2-a597-28c8119ada01 | - | - | - | - |
https://www.pharmgkb.org/clinicalAnnotation/1444699308 | - | - | - | - |
https://www.pharmgkb.org/clinicalAnnotation/1451435940 | - | - | - | - |
https://www.pharmgkb.org/clinicalAnnotation/1451435945 | - | - | - | - |
https://www.pharmgkb.org/clinicalAnnotation/1451436121 | - | - | - | - |
https://www.pharmgkb.org/clinicalAnnotation/1451439812 | - | - | - | - |
https://www.pharmgkb.org/variant/PA166158909 | - | - | - | - |
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Text-mined citations for rs267606619 ...
HelpRecord last updated Apr 15, 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.