Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001303073 | SCV001492307 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2022-02-05 | criteria provided, single submitter | clinical testing | 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: "Probably Damaging"; Align-GVGD: "Class C15"). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 100 of the DSG2 protein (p.Gly100Arg). This variant is present in population databases (rs754405184, gnomAD 0.002%). This missense change has been observed in individuals with arrhythmogenic right ventricular cardiomyopathy (PMID: 16505173, 24070718). ClinVar contains an entry for this variant (Variation ID: 1006083). 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. |