ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5789A>G (p.Asp1930Gly) (rs763582705)

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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 RCV000219104 SCV000271565 uncertain significance not specified 2015-02-24 criteria provided, single submitter clinical testing The p.Asp1930Gly variant in CDH23 has not been previously reported in individual s with hearing loss, but has been identified in 1/42108 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computa tional prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determin e pathogenicity. In summary, the clinical significance of the p.Asp1930Gly varia nt is uncertain.

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