ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4206+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1204500829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379081 SCV001576814 likely pathogenic not provided 2023-12-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 33 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 1067735). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003473915 SCV004210649 likely pathogenic Pituitary adenoma 5, multiple types 2023-07-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826148 SCV002093790 likely pathogenic Usher syndrome type 1 2021-04-07 no assertion criteria provided clinical testing

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