ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.472C>T (p.Arg158Cys) (rs200841002)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000602711 SCV000712136 uncertain significance not specified 2016-06-30 criteria provided, single submitter clinical testing The p.Arg158Cys variant in TMC1 has been identified by our laboratory in the het erozygous state in 2 individuals with hearing loss; however, one of these indivi duals had an alternate genetic cause for the hearing loss. This variant has also been identified in 19/126642 European chromosomes by the Genome Aggregation Dat abase (gnomAD,; dbSNP rs200841002). Although th is variant has been seen in the general population, its frequency is not high en ough to rule out a pathogenic role. Computational prediction tools and conservat ion analyses suggest that this variant may impact the protein, though this infor mation is not predictive enough to determine pathogenicity. In summary, the clin ical significance of the p.Arg158Cys variant is uncertain.

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