Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002300116 | SCV002590779 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2022-10-03 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 713 of the DSG2 protein (p.Glu713Asp). |
Ambry Genetics | RCV004047697 | SCV005018367 | uncertain significance | Cardiovascular phenotype | 2024-02-06 | criteria provided, single submitter | clinical testing | The p.E713D variant (also known as c.2139G>C), located in coding exon 14 of the DSG2 gene, results from a G to C substitution at nucleotide position 2139. The glutamic acid at codon 713 is replaced by aspartic acid, an amino acid with highly similar 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 alteration remains unclear. |