ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2289+1G>C

dbSNP: rs769433759
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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 RCV003021107 SCV003311367 pathogenic not provided 2022-02-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 21 of the CDH23 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Usher syndrome (PMID: 12075507, 31589614, 32467589). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 23451239). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475465 SCV004212322 likely pathogenic Pituitary adenoma 5, multiple types 2023-03-18 criteria provided, single submitter clinical testing

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