ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.646C>T (p.Arg216Trp)

gnomAD frequency: 0.00002  dbSNP: rs1490199319
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057935 SCV001222462 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 216 of the JUP protein (p.Arg216Trp). 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: 853171). This variant has not been reported in the literature in individuals affected with JUP-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.
Ambry Genetics RCV002365722 SCV002656910 uncertain significance Cardiovascular phenotype 2023-12-04 criteria provided, single submitter clinical testing The p.R216W variant (also known as c.646C>T), located in coding exon 3 of the JUP gene, results from a C to T substitution at nucleotide position 646. The arginine at codon 216 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001057935 SCV002783035 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-11-11 criteria provided, single submitter clinical testing

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