ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.527G>A (p.Arg176Gln) (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, Partners HealthCare 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 ( ACMG/AMP Criteria applied: BA1.
Invitae RCV000757416 SCV000287314 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000150853 SCV000515878 benign not specified 2016-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000619741 SCV000737027 benign Cardiovascular phenotype 2016-06-13 criteria provided, single submitter clinical testing Other strong data supporting benign classification
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000150853 SCV000885625 benign not specified 2018-10-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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 Cardiomyopathy; Dilated cardiomyopathy 2017-08-30 criteria provided, single submitter clinical testing

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