Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000798552 | SCV000938173 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2023-07-08 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 644597). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 82 of the DSG2 protein (p.Gly82Val). This variant is present in population databases (rs756081987, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. |
| Ambry Genetics | RCV004994016 | SCV005575788 | uncertain significance | Cardiovascular phenotype | 2024-11-03 | criteria provided, single submitter | clinical testing | The p.G82V variant (also known as c.245G>T), located in coding exon 4 of the DSG2 gene, results from a G to T substitution at nucleotide position 245. The glycine at codon 82 is replaced by valine, 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. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Gene |
RCV005051831 | SCV005686098 | uncertain significance | not provided | 2024-07-25 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |