ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.562dup (p.Thr188fs)

dbSNP: rs1857435780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240592 SCV001413555 pathogenic not provided 2019-11-15 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 not been reported in the literature in individuals with CDH23-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr188Asnfs*78) in the CDH23 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003473817 SCV004210620 likely pathogenic Pituitary adenoma 5, multiple types 2023-09-14 criteria provided, single submitter clinical testing

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