ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1903T>C (p.Cys635Arg)

gnomAD frequency: 0.00004  dbSNP: rs940804506
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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 RCV001224522 SCV001396724 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-08-16 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 635 of the DSG2 protein (p.Cys635Arg). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 952413). 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 DSG2 protein function. 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 RCV002411830 SCV002722658 uncertain significance Cardiovascular phenotype 2022-08-17 criteria provided, single submitter clinical testing The p.C635R variant (also known as c.1903T>C), located in coding exon 13 of the DSG2 gene, results from a T to C substitution at nucleotide position 1903. The cysteine at codon 635 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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