Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002760497 | SCV003010325 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2022-09-07 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (rs758742604, gnomAD 0.001%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 770 of the DSG2 protein (p.Glu770Lys). |
CHEO Genetics Diagnostic Laboratory, |
RCV003150575 | SCV003838127 | uncertain significance | Cardiomyopathy | 2022-02-03 | criteria provided, single submitter | clinical testing |