ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.288+2T>C

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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 RCV003015898 SCV003312553 pathogenic not provided 2022-02-12 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 21940737). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 4 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).
Baylor Genetics RCV003475464 SCV004210608 likely pathogenic Pituitary adenoma 5, multiple types 2023-09-29 criteria provided, single submitter clinical testing

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