Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001374093 | SCV001570867 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-10-21 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with glutamic acid at codon 168 of the JUP protein (p.Gln168Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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 | RCV002341815 | SCV002641802 | uncertain significance | Cardiovascular phenotype | 2022-03-23 | criteria provided, single submitter | clinical testing | The p.Q168E variant (also known as c.502C>G), located in coding exon 3 of the JUP gene, results from a C to G substitution at nucleotide position 502. The glutamine at codon 168 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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. |