ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.773A>G (p.Glu258Gly)

dbSNP: rs794729052
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Baylor-Hopkins CMG, Baylor College of Medicine 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

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