ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6655G>A (p.Asp2219Asn) (rs555684781)

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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 RCV000150309 SCV000197393 uncertain significance not specified 2016-01-06 criteria provided, single submitter clinical testing The p.Asp2219Asn variant in CDH23 has previously been reported in one individual with hearing loss (LMM unpublished data). This variant has been identified in 6 /116134 of the total chromosomes in the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs555684781); however, this frequency is not h igh enough to rule out a pathogenic role. Computational prediction tools and con servation analyses suggest that the p.Asp2219Asn variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of thep.Asp2219Asn variant is uncertain.

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