ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.251G>A (p.Arg84Gln)

gnomAD frequency: 0.00001  dbSNP: rs782061304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365390 SCV001561659 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-10-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 84 of the JUP protein (p.Arg84Gln). This variant is present in population databases (rs782061304, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of arrhythmogenic right ventricular cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 487584). 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.
GeneDx RCV001591344 SCV001822468 uncertain significance not provided 2020-08-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 31402444, 27532257)
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656146 SCV000678340 uncertain significance 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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