Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000804076 | SCV000943970 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2019-05-21 | 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: "Tolerated"; 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 aspartic acid with asparagine at codon 290 of the JUP protein (p.Asp290Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. |
| Ambry Genetics | RCV002370134 | SCV002683389 | uncertain significance | Cardiovascular phenotype | 2021-07-22 | criteria provided, single submitter | clinical testing | The p.D290N variant (also known as c.868G>A), located in coding exon 4 of the JUP gene, results from a G to A substitution at nucleotide position 868. The aspartic acid at codon 290 is replaced by asparagine, an amino acid with highly 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. |