Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000645192 | SCV000766934 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2017-09-15 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with valine at codon 181 of the JUP protein (p.Gly181Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. 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 disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 | RCV002343313 | SCV002648010 | uncertain significance | Cardiovascular phenotype | 2022-05-24 | criteria provided, single submitter | clinical testing | The p.G181V variant (also known as c.542G>T), located in coding exon 3 of the JUP gene, results from a G to T substitution at nucleotide position 542. The glycine at codon 181 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |