ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter)

dbSNP: rs2132820264
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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 RCV001386698 SCV001587036 pathogenic not provided 2020-04-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). This variant has been observed in individual(s) with Usher syndrome (PMID: 25468891). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1219*) in the CDH23 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV001386698 SCV003930000 pathogenic not provided 2022-12-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25468891)
Baylor Genetics RCV003473970 SCV004210631 pathogenic Pituitary adenoma 5, multiple types 2023-08-20 criteria provided, single submitter clinical testing

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