ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2177-2A>G

gnomAD frequency: 0.00001  dbSNP: rs1377982927
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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 RCV000810565 SCV000950778 likely pathogenic not provided 2018-12-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants 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 has been observed in an individual with Usher syndrome (PMID: 22135276). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 20 of the CDH23 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Baylor Genetics RCV004569665 SCV005060165 pathogenic Pituitary adenoma 5, multiple types 2024-03-07 criteria provided, single submitter clinical testing

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