ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2719dup (p.Val907fs)

dbSNP: rs2132733369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384792 SCV001584441 pathogenic not provided 2021-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val907Glyfs*13) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1072143). This variant has not been reported in the literature in individuals affected with CDH23-related conditions.

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