Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000183508 | SCV000235968 | uncertain significance | not provided | 2021-11-17 | criteria provided, single submitter | clinical testing | Reported in a patient with Wolff-Parkinson-White syndrome (Coban-Akdemir ZH et al., 2020); 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; This variant is associated with the following publications: (PMID: 32233023) |
Ambry Genetics | RCV002399672 | SCV002669346 | uncertain significance | Cardiovascular phenotype | 2022-09-09 | criteria provided, single submitter | clinical testing | The p.E258G variant (also known as c.773A>G), located in coding exon 4 of the JUP gene, results from an A to G substitution at nucleotide position 773. The glutamic acid at codon 258 is replaced by glycine, an amino acid with similar properties. This alteration has been reported in a Wolff-Parkinson-White syndrome cohort; however, clinical details were limited (Coban-Akdemir ZH et al. Am J Med Genet A, 2020 06;182:1387-1399). 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. |
Lupski Lab, |
RCV000656182 | SCV000678376 | likely pathogenic | Wolff-Parkinson-White pattern | 2017-07-14 | no assertion criteria provided | research | This variant was identified in an individual with Wolff-Parkinson-White syndrome |