Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001984791 | SCV002207502 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2025-02-03 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 175 of the JUP protein (p.Ser175Leu). This variant is present in population databases (rs782435477, gnomAD 0.007%). 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: 1435077). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 | RCV002334929 | SCV002642501 | uncertain significance | Cardiovascular phenotype | 2023-06-15 | criteria provided, single submitter | clinical testing | The p.S175L variant (also known as c.524C>T), located in coding exon 3 of the JUP gene, results from a C to T substitution at nucleotide position 524. The serine at codon 175 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
| Fulgent Genetics, |
RCV001984791 | SCV002790395 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-09-15 | criteria provided, single submitter | clinical testing |