ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1018A>G (p.Met340Val) (rs771281791)

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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 RCV000223470 SCV000272502 uncertain significance not specified 2014-12-19 criteria provided, single submitter clinical testing The p.Met340Val variant in TMC1 has not been previously reported in individuals with hearing loss, but has been identified in 2/11550 Latino chromosomes by the Exome Aggregation Consortium (ExAC, Computation al prediction tools and conservation analyses suggest that the p.Met340Val varia nt may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Met340 Val variant is uncertain.

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