ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2242G>T (p.Ala748Ser)

gnomAD frequency: 0.00001  dbSNP: rs752103709
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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 RCV001913654 SCV002186668 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing 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 C0"). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 748 of the CDH23 protein (p.Ala748Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1409398). 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.
Ambry Genetics RCV004975847 SCV005555977 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.2242G>T (p.A748S) alteration is located in exon 21 (coding exon 20) of the CDH23 gene. This alteration results from a G to T substitution at nucleotide position 2242, causing the alanine (A) at amino acid position 748 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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