Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000475435 | SCV000550406 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2016-11-24 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a JUP-related disease. This sequence change replaces serine with asparagine at codon 464 of the JUP protein (p.Ser464Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. |
| Ambry Genetics | RCV002393134 | SCV002700089 | uncertain significance | Cardiovascular phenotype | 2022-10-17 | criteria provided, single submitter | clinical testing | The p.S464N variant (also known as c.1391G>A), located in coding exon 7 of the JUP gene, results from a G to A substitution at nucleotide position 1391. The serine at codon 464 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. |