Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001036797 | SCV001200180 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2019-02-25 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 1094 of the DSG2 protein (p.Gly1094Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DSG2-related conditions. This variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV003160218 | SCV003855991 | uncertain significance | Cardiovascular phenotype | 2022-12-01 | criteria provided, single submitter | clinical testing | The p.G1094R variant (also known as c.3280G>C), located in coding exon 15 of the DSG2 gene, results from a G to C substitution at nucleotide position 3280. The glycine at codon 1094 is replaced by arginine, 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. |