ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.989C>A (p.Thr330Asn) (rs782145797)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183494 SCV000235954 uncertain significance not specified 2015-10-28 criteria provided, single submitter clinical testing p.Thr330Asn (ACC>AAC): c.989 C>A in exon 6 of the JUP gene (NM_002230.2). The Thr330Asn variant in the JUP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although Thr330Asn results in a conservative amino acid substitution of one neutral, polar amino acid for another, this substitution occurs at a position that is well conserved across species. Consequently, in silico analysis predicts Thr330Asn is damaging to the protein structure/function. In addition, Thr330Asn was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in ARVC panel(s).
Invitae RCV000795191 SCV000934635 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-11-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 330 of the JUP protein (p.Thr330Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (rs782145797, ExAC 0.01%). This variant has not been reported in the literature in individuals with JUP-related disease. ClinVar contains an entry for this variant (Variation ID: 201820). 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"). 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.

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