ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6867del (p.Asn2289fs)

dbSNP: rs2494399871
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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 RCV003022017 SCV003316715 pathogenic not provided 2023-05-21 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 2103193). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asn2289Lysfs*84) 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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