ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.114C>A (p.Ser38Arg)

dbSNP: rs782391511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001984865 SCV002207571 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-03-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs782391511, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 38 of the JUP protein (p.Ser38Arg). This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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.

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