ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1100G>T (p.Arg367Leu)

gnomAD frequency: 0.00001  dbSNP: rs782067441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367048 SCV001563380 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-11-03 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: 1057968). 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 arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 367 of the JUP protein (p.Arg367Leu).
GeneDx RCV004720874 SCV005327123 uncertain significance not provided 2023-09-14 criteria provided, single submitter clinical testing Observed in an individual with Ebstein anomaly (PMID: 27788187); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27788187)

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