Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071739 | SCV001237059 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2023-06-08 | criteria provided, single submitter | clinical testing | 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 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. ClinVar contains an entry for this variant (Variation ID: 864527). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 674 of the JUP protein (p.Lys674Arg). |
Ambry Genetics | RCV002418568 | SCV002718498 | uncertain significance | Cardiovascular phenotype | 2019-08-12 | criteria provided, single submitter | clinical testing | The p.K674R variant (also known as c.2021A>G), located in coding exon 11 of the JUP gene, results from an A to G substitution at nucleotide position 2021. The lysine at codon 674 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, arginine is the reference amino acid in other vertebrate species. 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. |
Clinical Genetics, |
RCV001699507 | SCV001917507 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001699507 | SCV001970665 | uncertain significance | not provided | no assertion criteria provided | clinical testing |