ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser)

gnomAD frequency: 0.00001  dbSNP: rs760043975
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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 RCV001559184 SCV001781274 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559185 SCV001781275 uncertain significance Usher syndrome type 1D 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002032631 SCV002179951 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 945 of the CDH23 protein (p.Gly945Ser). This variant is present in population databases (rs760043975, 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: 1195907). 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 C55"). 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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