ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1099C>G (p.Arg367Gly)

gnomAD frequency: 0.00003  dbSNP: rs76416187
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183496 SCV000235956 uncertain significance not provided 2019-04-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV000645200 SCV000766942 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-01-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 201821). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs76416187, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 367 of the JUP protein (p.Arg367Gly).
Fulgent Genetics, Fulgent Genetics RCV000645200 SCV002782084 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020220 SCV005018136 uncertain significance Cardiovascular phenotype 2023-10-18 criteria provided, single submitter clinical testing The p.R367G variant (also known as c.1099C>G), located in coding exon 6 of the JUP gene, results from a C to G substitution at nucleotide position 1099. The arginine at codon 367 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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