ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.578T>C (p.Met193Thr)

gnomAD frequency: 0.00009  dbSNP: rs139496777
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208130 SCV000263963 uncertain significance Primary dilated cardiomyopathy 2015-09-15 criteria provided, single submitter clinical testing
Invitae RCV000468133 SCV000550405 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 193 of the JUP protein (p.Met193Thr). This variant is present in population databases (rs139496777, gnomAD 0.01%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 27532257, 31983221). ClinVar contains an entry for this variant (Variation ID: 222661). 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 RCV001536180 SCV001752902 uncertain significance not provided 2020-05-05 criteria provided, single submitter clinical testing Identified in an individual with DCM in the published literature (Walsh et al., 2017); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 222661; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31983221, 27532257)
Ambry Genetics RCV002354587 SCV002648944 likely benign Cardiovascular phenotype 2022-03-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000468133 SCV002782350 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-09-12 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656166 SCV000678360 uncertain significance Wolff-Parkinson-White pattern 2017-07-14 no assertion criteria provided research This variant was identified in an individual with Wolff-Parkinson-White syndrome

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