ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.571C>T (p.Arg191Cys)

gnomAD frequency: 0.00001  dbSNP: rs781905238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001977963 SCV002257986 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-09-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 191 of the JUP protein (p.Arg191Cys). This variant is present in population databases (rs781905238, gnomAD 0.003%). 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: 1476469). 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.
Ambry Genetics RCV002344153 SCV002650140 uncertain significance Cardiovascular phenotype 2023-04-26 criteria provided, single submitter clinical testing The p.R191C variant (also known as c.571C>T), located in coding exon 3 of the JUP gene, results from a C to T substitution at nucleotide position 571. The arginine at codon 191 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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.

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