ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) (rs775436759)

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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 RCV000609825 SCV000712120 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The p.Val2393Met variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 3/8624 East As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs775436759). Although this variant has been seen in the gener al population, its frequency is not high enough to rule out a pathogenic role. C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. In summary, the clinical signific ance of this variant is uncertain.

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