ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1486C>A (p.Pro496Thr)

gnomAD frequency: 0.00004  dbSNP: rs1220042864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687366 SCV000814929 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-12-07 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: 567321). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 496 of the JUP protein (p.Pro496Thr).
GeneDx RCV001771937 SCV001993506 uncertain significance not provided 2019-05-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance by another clinical laboratory (ClinVar Variant ID# 567321; Landrum et al., 2016)
Ambry Genetics RCV002388205 SCV002702641 uncertain significance Cardiovascular phenotype 2022-09-09 criteria provided, single submitter clinical testing The p.P496T variant (also known as c.1486C>A), located in coding exon 7 of the JUP gene, results from a C to A substitution at nucleotide position 1486. The proline at codon 496 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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