ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.256C>T (p.Arg86Trp)

gnomAD frequency: 0.00001  dbSNP: rs782240305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202975 SCV001374113 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-08-16 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 934561). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 86 of the JUP protein (p.Arg86Trp). 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. This variant has not been reported in the literature in individuals affected with JUP-related conditions.
Ambry Genetics RCV002429865 SCV002741708 uncertain significance Cardiovascular phenotype 2022-10-02 criteria provided, single submitter clinical testing The p.R86W variant (also known as c.256C>T), located in coding exon 2 of the JUP gene, results from a C to T substitution at nucleotide position 256. The arginine at codon 86 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 RCV001202975 SCV002784986 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-11-17 criteria provided, single submitter clinical testing

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