Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Genomics Program, |
RCV001093565 | SCV000999132 | uncertain significance | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Invitae | RCV001233758 | SCV001406367 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2019-10-19 | 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 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"). This variant has not been reported in the literature in individuals with JUP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 316 of the JUP protein (p.Val316Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine. |