Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003632755 | SCV004538270 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2023-10-08 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 338 of the DSG2 protein (p.Lys338Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Ambry Genetics | RCV004621884 | SCV005117147 | uncertain significance | Cardiovascular phenotype | 2024-05-25 | criteria provided, single submitter | clinical testing | The p.K338R variant (also known as c.1013A>G), located in coding exon 8 of the DSG2 gene, results from an A to G substitution at nucleotide position 1013. The lysine at codon 338 is replaced by arginine, 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 variant remains unclear. |