ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1502A>G (p.Asp501Gly)

gnomAD frequency: 0.00001  dbSNP: rs763437495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002542948 SCV003522189 uncertain significance not provided 2022-04-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 501 of the CDH23 protein (p.Asp501Gly). This variant is present in population databases (rs763437495, 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: 991908). 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"). 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. RCV001280197 SCV001467357 uncertain significance Usher syndrome type 1 2020-04-11 no assertion criteria provided clinical testing

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