ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.352G>A (p.Glu118Lys)

gnomAD frequency: 0.00011  dbSNP: rs149004293
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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 RCV000171964 SCV000050951 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171964 SCV000536629 uncertain significance not provided 2019-09-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in 0.0066% (18/271148) of global alleles in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 191676; Landrum et al., 2016); Reported as a variant of uncertain significance in one individual from a cohort of individuals not selected for cardiomyopathy, arrhythmia, or family history of sudden cardiac death, who underwent exome sequencing (Ng et al., 2013); This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV000705755 SCV000834768 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-05-15 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: 191676). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs149004293, gnomAD 0.06%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 118 of the JUP protein (p.Glu118Lys).
Ambry Genetics RCV002453594 SCV002616147 benign Cardiovascular phenotype 2022-08-11 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000705755 SCV002793781 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-07-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000171964 SCV004562412 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing The JUP c.352G>A; p.Glu118Lys variant (rs149004293), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 191676). This variant is found in the African/African-American population with an allele frequency of 0.0549% (13/23,676 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.4). Due to limited information, the clinical significance of this variant is uncertain at this time.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678710 SCV000804875 uncertain significance Left ventricular hypertrophy 2016-01-22 no assertion criteria provided clinical testing

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