ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2128C>T (p.Pro710Ser)

gnomAD frequency: 0.00004  dbSNP: rs782693565
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535229 SCV000645733 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-11-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 710 of the JUP protein (p.Pro710Ser). This variant is present in population databases (rs782693565, gnomAD 0.005%). 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: 468749). 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. 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.
GeneDx RCV001764577 SCV001990037 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 468749; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV000535229 SCV002787330 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-07-13 criteria provided, single submitter clinical testing

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