Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002504891 | SCV002816547 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002513475 | SCV003443784 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2022-08-09 | 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on DSG2 function (PMID: 23128240). 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 C0"). ClinVar contains an entry for this variant (Variation ID: 44311). This missense change has been observed in individual(s) with DSG2-related conditions (PMID: 20857253). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 1047 of the DSG2 protein (p.Thr1047Arg). |
Laboratory for Molecular Medicine, |
RCV000037299 | SCV000060956 | uncertain significance | not specified | 2008-05-23 | no assertion criteria provided | clinical testing |