ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3220+5G>A

gnomAD frequency: 0.00013  dbSNP: rs977262704
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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 RCV001195490 SCV001365867 uncertain significance not specified 2019-09-25 criteria provided, single submitter clinical testing The c.3220+5G>A variant in CDH23 has not been previously reported in individuals with Usher syndrome or hearing loss but has been identified in 0.01% (4/24116) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is located in the 5' splice region. Computational tools predict a splicing impact, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001318018 SCV001508705 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the CDH23 gene. It does not directly change the encoded amino acid sequence of the CDH23 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 930070). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001828609 SCV002088017 uncertain significance Usher syndrome type 1 2020-03-11 no assertion criteria provided clinical testing

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