ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.2144A>T (p.Tyr715Phe) (rs41310067)

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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 RCV000041138 SCV000064829 uncertain significance not specified 2016-12-13 criteria provided, single submitter clinical testing The p.Tyr715Phe variant in TMC1 has been identified by our laboratory in the het erozygous state in 2 siblings with hearing loss in a Caucasian family. This vari ant has been identified in 31/65906 European chromosomes by the Exome Aggregatio n Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs41310067). Computati onal prediction tools and conservation analysis do not provide strong support fo r or against an impact to the protein. In summary, the clinical significance of the p.Tyr715Phe variant is uncertain.

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