ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2476del (p.Leu826fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002830078 SCV003214864 pathogenic not provided 2022-07-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This sequence change creates a premature translational stop signal (p.Leu826Serfs*27) 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). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005045010 SCV005680038 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2024-03-23 criteria provided, single submitter clinical testing

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