ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.227_233dup (p.Phe78fs)

dbSNP: rs2132196113
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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 RCV001390687 SCV001592488 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076701). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe78Leufs*8) 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).

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