ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1606C>G (p.Gln536Glu)

gnomAD frequency: 0.00001  dbSNP: rs782683108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586645 SCV000699462 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing Variant summary: The JUP c.1606C>G (p.Gln536Glu) variant located in the Armadillo-type fold domain (via InterPro) causes a missense change involving a conserved nucleotide, which 2/4 in silico tools predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/81916, which does not exceed the estimated maximal expected allele frequency for a pathogenic JUP variant of 1/40000. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
Invitae RCV002530941 SCV003500071 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-05-09 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. 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. ClinVar contains an entry for this variant (Variation ID: 496449). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782683108, gnomAD 0.02%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 536 of the JUP protein (p.Gln536Glu).

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