ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)

dbSNP: rs121908350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386699 SCV001587037 pathogenic not provided 2022-10-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln1294*) 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 premature translational stop signal has been observed in individuals with clinical features of Usher syndrome (PMID: 11090341; Invitae). This variant is also known as Q492X. ClinVar contains an entry for this variant (Variation ID: 4921).
OMIM RCV000005203 SCV000025380 pathogenic Usher syndrome type 1D 2001-01-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291211 SCV001479636 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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