ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.526C>T (p.Arg176Trp) (rs368336007)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171963 SCV000054837 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000208296 SCV000263961 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244325 SCV000320615 uncertain significance Cardiovascular phenotype 2019-03-05 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000466475 SCV000550393 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2016-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 176 of the JUP protein (p.Arg176Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs368336007, ExAC 0.04%) . This variant was reported in an individual affected with dilated cardiomyopathy (PMID: 21859740). This variant was reported in the literature as R176C. ClinVar contains an entry for this variant (Variation ID: 191675). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000499623 SCV000598142 uncertain significance Primary dilated cardiomyopathy 2016-10-26 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196951 SCV001367585 uncertain significance Cardiovascular 2020-03-05 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,PM5. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198755 SCV001369750 uncertain significance Ventricular fibrillation 2020-02-25 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in heterozygous state.

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