ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.773A>G (p.Glu258Gly) (rs794729052)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183508 SCV000235968 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing p.Glu258Gly (GAG>GGG): c.773 A>G in exon 5 of the JUP gene (NM_002230.2). The E258G variant that is likely pathogenic was identified in the JUP gene. It has not been published as a pathogenic variant or as a benign polymorphism to our knowledge. The E258G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Moreover, the E258G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded. The variant is found in CARDIOMYOPATHY panel(s).
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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