ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.336+1G>A

gnomAD frequency: 0.00007  dbSNP: rs764824311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203166 SCV001374317 pathogenic not provided 2023-12-31 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 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 present in population databases (rs764824311, gnomAD 0.02%). Disruption of this splice site has been observed in individuals with Usher syndrome (PMID: 12075507, 18429043). ClinVar contains an entry for this variant (Variation ID: 934718). 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.
Baylor Genetics RCV003473739 SCV004210650 pathogenic Pituitary adenoma 5, multiple types 2023-07-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828631 SCV002086269 pathogenic Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing

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