ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.745A>C (p.Thr249Pro)

dbSNP: rs2143652715
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phosphorus, Inc. RCV001823811 SCV002073392 uncertain significance not specified 2022-01-17 criteria provided, single submitter clinical testing This missense variant results in a substitution of threonine with proline at codon 249 of the JUP gene (transcript NM_002230.2). This variant has not been reported in ClinVar and has not occurred in population databases. This position is conserved. In silico functional algorithms agree, predicting it as probably damaging (PolyPhen), deleterious (SIFT), and pathogenic (REVEL), but no functional studies were performed to confirm these predictions. The variant has not occurred in the literature associated with the disease. In conclusion, the available evidence is insufficient to determine the pathogenicity of this variant. Therefore, it is classified as a Variant of Uncertain Significance.
Invitae RCV002542746 SCV003204949 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-06-13 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"). 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 threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 249 of the JUP protein (p.Thr249Pro).

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