ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.425G>C (p.Cys142Ser)

gnomAD frequency: 0.00001  dbSNP: rs1478081073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001909689 SCV002178325 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2023-03-23 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 142 of the DSC2 protein (p.Cys142Ser). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 1409163).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307791 SCV002600416 uncertain significance not specified 2022-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331438 SCV002630824 uncertain significance Cardiovascular phenotype 2021-10-19 criteria provided, single submitter clinical testing The p.C142S variant (also known as c.425G>C), located in coding exon 4 of the DSC2 gene, results from a G to C substitution at nucleotide position 425. The cysteine at codon 142 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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