Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000796985 | SCV000936521 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2018-07-18 | 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 218 of the JUP protein (p.Gly218Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. |
| Ambry Genetics | RCV002360932 | SCV002660843 | uncertain significance | Cardiovascular phenotype | 2022-04-20 | criteria provided, single submitter | clinical testing | The p.G218R variant (also known as c.652G>C), located in coding exon 3 of the JUP gene, results from a G to C substitution at nucleotide position 652. The glycine at codon 218 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |