ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.527G>A (p.Arg176Gln) (rs144171604)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757416 SCV000885625 benign not provided 2018-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619741 SCV000737027 benign Cardiovascular phenotype 2016-06-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
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.
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.
Invitae RCV000227697 SCV000287314 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-09-12 criteria provided, single submitter clinical testing
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 ident ified in 1% (358/35322) of Latino chromosomes by gnomAD (https://gnomad.broadins titute.org). ACMG/AMP Criteria applied: BA1.

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