ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.527G>A (p.Arg176Gln)

gnomAD frequency: 0.00016  dbSNP: rs144171604
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150853 SCV000198410 benign not specified 2019-03-08 criteria provided, single submitter clinical testing The p.Arg176Gln variant in JUP is classified as benign because it has been identified in 1% (358/35322) of Latino chromosomes by gnomAD (https://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
Invitae RCV000757416 SCV000287314 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001704084 SCV000515878 benign not provided 2019-07-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31453292)
Ambry Genetics RCV000619741 SCV000737027 benign Cardiovascular phenotype 2016-06-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001704084 SCV000885625 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000150853 SCV000919547 benign not specified 2017-12-26 criteria provided, single submitter clinical testing Variant summary: The JUP c.527G>A (p.Arg176Gln) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 375/268868 control chromosomes (5 homozygotes), predominantly observed in the Latino subpopulation at a frequency of 0.010312 (354/34328). This frequency is about 1031 times the estimated maximal expected allele frequency of a pathogenic JUP variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. In an internal sample, variant was found to co-occur with two likely pathgoenic variants KCNQ1 c.1515-2_1515-1delAG and RYR2 c.1298T>C, further supporting the benign nature of this variant. Taken together, this variant is classified as benign.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852720 SCV000995435 benign Primary dilated cardiomyopathy; Cardiomyopathy 2017-08-30 criteria provided, single submitter clinical testing

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