ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.637C>T (p.Pro213Ser) (rs745569653)

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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 RCV000615974 SCV000712221 uncertain significance not specified 2016-06-30 criteria provided, single submitter clinical testing The p.Pro213Ser variant in TMC1 has not been previously reported in individuals with hearing loss. This variant has been identified in 9/66730 of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs745569653); however, its frequency is not high enough to rule out a pa thogenic role. Computational prediction tools and conservation analyses do not p rovide strong support for or against an impact to the protein. In summary, the c linical significance of the p.Pro213Ser variant is uncertain.

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