ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5402del (p.Leu1801fs)

dbSNP: rs2494356918
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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 RCV002857677 SCV003229058 pathogenic not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1801Glnfs*19) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. For these reasons, this variant has been classified as Pathogenic.

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