ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2500C>T (p.Arg834Cys) (rs372387390)

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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 RCV000156496 SCV000206215 uncertain significance not specified 2014-05-14 criteria provided, single submitter clinical testing The Arg834Cys variant in CDH23 has not been previously reported in individuals w ith hearing loss, but has been identified in 0.023% (2/8538) of European America n chromosomes by the NHLBI Exome Sequencing Project ( u/EVS/; dbSNP rs372387390). Although this variant has been seen in the general p opulation, its frequency is not high enough to rule out a pathogenic role. Compu tational prediction tools and conservation analyses suggest that the Arg834Cys v ariant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the Arg834C ys variant is uncertain.

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