ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) (rs375510570)

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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 RCV000222966 SCV000272150 uncertain significance not specified 2016-04-03 criteria provided, single submitter clinical testing The p.Arg836Cys variant in MYO7A has not been previously reported in individuals with hearing loss, but has been identified in 0.3% (14/4106) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375510570). Although this variant has been seen in the general populati on, its frequency is not high enough to rule out a pathogenic role. Computationa l prediction tools and conservation analyses suggest the variant may impact the protein, though this data is not sufficient to determine pathogenicity. In summa ry, the clinical significance of the p.Arg836Cys variant is uncertain.

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