Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000150850 | SCV000198404 | uncertain significance | not specified | 2013-04-21 | criteria provided, single submitter | clinical testing | The Arg333His variant in JUP has not been reported in individuals with cardiomyo pathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide st rong support for or against an impact to the protein. Additional studies are nee ded to fully assess the clinical significance of this variant. |
| Labcorp Genetics |
RCV001850054 | SCV002128331 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 333 of the JUP protein (p.Arg333His). This variant is present in population databases (rs727503099, gnomAD 0.003%). 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: 163720). 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 | RCV002381468 | SCV002689651 | uncertain significance | Cardiovascular phenotype | 2024-12-07 | criteria provided, single submitter | clinical testing | The c.998G>A (p.R333H) alteration is located in exon 6 (coding exon 5) of the JUP gene. This alteration results from a G to A substitution at nucleotide position 998, causing the arginine (R) at amino acid position 333 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV001850054 | SCV002816021 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-09-01 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV004783754 | SCV005396517 | uncertain significance | not provided | 2024-05-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |