ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)

gnomAD frequency: 0.00001  dbSNP: rs782205755
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195494 SCV001365872 uncertain significance not specified 2020-04-20 criteria provided, single submitter clinical testing The p.Arg582Trp variant in JUP has not been previously reported in individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC) or Naxos disease, but has been identified in 0.003% (1/30616) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001324254 SCV001515202 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-06-22 criteria provided, single submitter clinical testing 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 disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 930073). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782205755, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 582 of the JUP protein (p.Arg582Trp).
Fulgent Genetics, Fulgent Genetics RCV001324254 SCV002786781 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-10-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001195494 SCV003845054 uncertain significance not specified 2023-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163495 SCV003912974 uncertain significance Cardiovascular phenotype 2023-01-01 criteria provided, single submitter clinical testing The p.R582W variant (also known as c.1744C>T), located in coding exon 9 of the JUP gene, results from a C to T substitution at nucleotide position 1744. The arginine at codon 582 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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