ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys)

gnomAD frequency: 0.00003  dbSNP: rs782756834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645193 SCV000766935 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-08-13 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 536624). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782756834, gnomAD 0.004%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 480 of the JUP protein (p.Tyr480Cys).
Ambry Genetics RCV002388098 SCV002696270 uncertain significance Cardiovascular phenotype 2022-11-14 criteria provided, single submitter clinical testing The p.Y480C variant (also known as c.1439A>G), located in coding exon 7 of the JUP gene, results from an A to G substitution at nucleotide position 1439. The tyrosine at codon 480 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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