Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000645193 | SCV000766935 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2022-08-13 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 536624). 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 C15"). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782756834, gnomAD 0.004%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 480 of the JUP protein (p.Tyr480Cys). 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. |
| Ambry Genetics | RCV002388098 | SCV002696270 | uncertain significance | Cardiovascular phenotype | 2022-11-14 | criteria provided, single submitter | clinical testing | The p.Y480C variant (also known as c.1439A>G), located in coding exon 7 of the JUP gene, results from an A to G substitution at nucleotide position 1439. The tyrosine at codon 480 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |