ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys)

gnomAD frequency: 0.00001  dbSNP: rs775017408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559229 SCV001781354 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559230 SCV001781355 uncertain significance Usher syndrome type 1D 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882648 SCV002214420 uncertain significance not provided 2022-06-04 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 928 of the CDH23 protein (p.Arg928Cys). This variant is present in population databases (rs775017408, gnomAD 0.003%). 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: 1195937). 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.

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