ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1276C>T (p.Arg426Cys)

gnomAD frequency: 0.00001  dbSNP: rs373674747
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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 RCV001245578 SCV001418875 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 426 of the CDH23 protein (p.Arg426Cys). This variant is present in population databases (rs373674747, gnomAD 0.004%). 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: 970077). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). 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.
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004821302 SCV005442576 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2024-12-15 criteria provided, single submitter research The CDH23 c.1276C>T:p.(Arg426Cys) variant, predicted deleterioos, is very rare. It was detected in an individual with sloping normal-to-severe hearing loss that carried an additional variant in another USH gene, MYO7A c.535A>G:p.(Ser179Gly). Both genes are known to be involved in NSHL as well as in USH syndrome. The hearing loss in this case might be caused by digenic inheritance of the two variants. ;
Natera, Inc. RCV001829959 SCV002091108 uncertain significance Usher syndrome type 1 2020-07-14 no assertion criteria provided clinical testing

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