ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6344del (p.Arg2115fs)

dbSNP: rs1589424694
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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 RCV000810126 SCV000950315 pathogenic not provided 2020-06-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2115Profs*28) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. 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. ClinVar contains an entry for this variant (Variation ID: 654212). This variant is not present in population databases (ExAC no frequency).
Baylor Genetics RCV003472407 SCV004212387 likely pathogenic Pituitary adenoma 5, multiple types 2021-11-22 criteria provided, single submitter clinical testing

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