ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2398-1G>T

gnomAD frequency: 0.00001  dbSNP: rs751788879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000225441 SCV001240440 likely pathogenic Retinal dystrophy 2019-07-23 criteria provided, single submitter clinical testing
Invitae RCV001227028 SCV001399364 pathogenic not provided 2023-07-03 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 22 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). ClinVar contains an entry for this variant (Variation ID: 236429). 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. Disruption of this splice site has been observed in individuals with clinical features of Usher syndrome (PMID: 27208204; Invitae). This variant is present in population databases (rs751788879, gnomAD 0.0009%).
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225441 SCV000282535 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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