Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004119548 | SCV003586331 | uncertain significance | Cardiovascular phenotype | 2021-11-09 | criteria provided, single submitter | clinical testing | The c.1729G>C (p.G577R) alteration is located in exon 12 (coding exon 12) of the DSG2 gene. This alteration results from a G to C substitution at nucleotide position 1729, causing the glycine (G) at amino acid position 577 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003517443 | SCV004291295 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2023-03-10 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 2260291). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 577 of the DSG2 protein (p.Gly577Arg). |
| Genotypic Technology Pvt Ltd | RCV003458252 | SCV003934999 | uncertain significance | Hypertrophic cardiomyopathy | 2022-11-08 | no assertion criteria provided | clinical testing |