ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003021107 SCV003311367 pathogenic not provided 2022-02-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). Disruption of this splice site has been observed in individuals with Usher syndrome (PMID: 12075507, 31589614, 32467589). This variant is not present in population databases (gnomAD no frequency). 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).
Baylor Genetics RCV003475465 SCV004212322 likely pathogenic Pituitary adenoma 5, multiple types 2023-03-18 criteria provided, single submitter clinical testing

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