Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002605095 | SCV002965098 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2022-07-03 | 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. 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 DSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 126 of the DSC2 protein (p.Lys126Asn). |
All of Us Research Program, |
RCV004007514 | SCV004843169 | uncertain significance | Familial isolated arrhythmogenic right ventricular dysplasia | 2023-11-30 | criteria provided, single submitter | clinical testing |