Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001181978 | SCV001347249 | likely benign | Cardiomyopathy | 2020-03-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003517310 | SCV004343220 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2023-08-20 | criteria provided, single submitter | clinical testing | 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: 922117). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 425 of the DSG2 protein (p.His425Arg). |