ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6049+1G>A

dbSNP: rs111033247
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039234 SCV000062918 pathogenic Rare genetic deafness 2007-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001054958 SCV001219320 pathogenic not provided 2024-10-26 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 46 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 individual(s) with Usher syndrome (PMID: 8894709, 11090341). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 45999). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291214 SCV001479639 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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