ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.859A>G (p.Ile287Val)

dbSNP: rs1567815934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700833 SCV000829606 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-06-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 577963). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 287 of the JUP protein (p.Ile287Val).
Fulgent Genetics, Fulgent Genetics RCV000700833 SCV002788689 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-07-30 criteria provided, single submitter clinical testing

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