ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4988A>G (p.Asp1663Gly)

gnomAD frequency: 0.00002  dbSNP: rs747087196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001915429 SCV002177403 uncertain significance not provided 2022-07-12 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 1663 of the CDH23 protein (p.Asp1663Gly). This variant is present in population databases (rs747087196, gnomAD 0.01%). This missense change has been observed in individual(s) with congenital deafness (Invitae). ClinVar contains an entry for this variant (Variation ID: 1399191). 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. This variant disrupts the p.Asp1663 amino acid residue in CDH23. Other variant(s) that disrupt this residue have been observed in individuals with CDH23-related conditions (PMID: 25231367), which suggests that this may be a clinically significant amino acid residue. 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.
GeneDx RCV001915429 SCV003915318 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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