Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555971 | SCV000641991 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2023-07-07 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (rs753854046, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 179 of the DSG2 protein (p.Met179Thr). ClinVar contains an entry for this variant (Variation ID: 466346). 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 DSG2 protein function. |
Color Diagnostics, |
RCV001182168 | SCV001347523 | uncertain significance | Cardiomyopathy | 2018-11-16 | criteria provided, single submitter | clinical testing |