ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1114G>A (p.Val372Met) (rs367924428)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000268431 SCV000341816 likely pathogenic not provided 2018-04-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778151 SCV000914283 uncertain significance Deafness, autosomal recessive 7 2019-04-05 criteria provided, single submitter clinical testing The TMC1 c.1114G>A (p.Val372Met) missense variant has been reported in at least four studies, in which it is found in a homozygous state in four families with recessive nonsyndromic hearing loss, including three from Pakistan and one from India (Santos et al. 2005; Ganapathy et al. 2014; Shafique et al. 2014). The number of affected individuals in each family is not clear from the literature. At least one family is consanguineous. The p.Val372Met variant was absent from 234 control chromosomes but is reported at a frequency of 0.000301 in the South Asian population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Val372Met variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive nonsyndromic hearing loss. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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