ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter)

dbSNP: rs779974496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001951481 SCV002238539 pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CDH23-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Gln579*) 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).
Baylor Genetics RCV003475258 SCV004212308 likely pathogenic Pituitary adenoma 5, multiple types 2023-04-22 criteria provided, single submitter clinical testing

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