ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)

gnomAD frequency: 0.00006  dbSNP: rs201579860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001880255 SCV002276212 uncertain significance not provided 2021-11-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 2432 of the CDH23 protein (p.Gly2432Asp). This variant is present in population databases (rs201579860, gnomAD 0.01%). 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: 990294). 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.
Fulgent Genetics, Fulgent Genetics RCV002486036 SCV002790286 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-09-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278285 SCV001465283 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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