ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter)

dbSNP: rs1589344004
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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 RCV001380244 SCV001578238 pathogenic not provided 2022-10-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CDH23-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1068626). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr783*) 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 RCV003473923 SCV004212372 likely pathogenic Pituitary adenoma 5, multiple types 2024-01-04 criteria provided, single submitter clinical testing

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