ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244325 SCV000320615 uncertain significance Cardiovascular phenotype 2015-12-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
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
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
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.

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