Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039374 | SCV001202904 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2022-03-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 732 of the JUP protein (p.Gly732Ser). This variant is present in population databases (rs781885294, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 837932). 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. 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 | RCV002427495 | SCV002728660 | uncertain significance | Cardiovascular phenotype | 2022-10-11 | criteria provided, single submitter | clinical testing | The p.G732S variant (also known as c.2194G>A), located in coding exon 13 of the JUP gene, results from a G to A substitution at nucleotide position 2194. The glycine at codon 732 is replaced by serine, an amino acid with similar 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. |
Fulgent Genetics, |
RCV001039374 | SCV002781647 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-10-13 | criteria provided, single submitter | clinical testing |