ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1976A>G (p.Asp659Gly)

dbSNP: rs782124059
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV001089612 SCV001245086 uncertain significance Hypertrophic cardiomyopathy 2018-11-15 criteria provided, single submitter research This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband(s) identified with this variant. For further information please feel free to contact us.
Invitae RCV001248359 SCV001421840 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 659 of the JUP protein (p.Asp659Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 870079). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507380 SCV001712906 uncertain significance not provided 2020-04-14 criteria provided, single submitter clinical testing
GeneDx RCV001507380 SCV001988217 uncertain significance not provided 2018-12-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV003989638 SCV004808305 uncertain significance Arrhythmogenic right ventricular dysplasia 12 2022-11-10 no assertion criteria provided clinical testing

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