Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 | |
Gene |
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, |
RCV001704084 | SCV000885625 | benign | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Women's Health and 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, |
RCV000852720 | SCV000995435 | benign | Primary dilated cardiomyopathy; Cardiomyopathy | 2017-08-30 | criteria provided, single submitter | clinical testing |