ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.55A>G (p.Thr19Ala)

dbSNP: rs1555607105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442364 SCV004169907 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV003778480 SCV004570286 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-09-20 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 19 of the JUP protein (p.Thr19Ala). 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. 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. This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%).

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