Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464201 | SCV000550404 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2016-05-30 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a JUP-related disease. This sequence change replaces alanine with valine at codon 411 of the JUP protein (p.Ala411Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330697 | SCV004038224 | uncertain significance | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |