Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001061269 | SCV001226007 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2019-01-03 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with aspartic acid at codon 252 of the JUP protein (p.Asn252Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with JUP-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
| Fulgent Genetics, |
RCV001061269 | SCV002788838 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-08-27 | criteria provided, single submitter | clinical testing |