Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208003 | SCV000263845 | likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy | 2015-09-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001303072 | SCV001492306 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2022-06-23 | 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 have shown that this missense change affects DSC2 function (PMID: 21062920). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 222557). This missense change has been observed in individual(s) with clinical features of DSC2-related conditions (PMID: 21062920, 31024045). This variant is present in population databases (rs397517404, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 275 of the DSC2 protein (p.Thr275Met). |