ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2089A>T (p.Met697Leu)

gnomAD frequency: 0.66611  dbSNP: rs1126821
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 19
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000039075 SCV000051544 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039075 SCV000062753 benign not specified 2011-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000039075 SCV000169893 benign not specified 2011-08-08 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.
Preventiongenetics, part of Exact Sciences RCV000039075 SCV000308772 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251926 SCV000317617 benign Cardiovascular phenotype 2015-03-09 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.
Illumina Laboratory Services, Illumina RCV000020467 SCV000402700 benign Naxos disease 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000351947 SCV000402701 benign Arrhythmogenic right ventricular dysplasia 12 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000039075 SCV000740577 benign not specified 2016-05-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811192 SCV001156888 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001513998 SCV001721726 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000351947 SCV001980845 benign Arrhythmogenic right ventricular dysplasia 12 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020467 SCV001980847 benign Naxos disease 2021-08-19 criteria provided, single submitter clinical testing
GeneReviews RCV000351947 SCV000040899 not provided Arrhythmogenic right ventricular dysplasia 12 no assertion provided literature only c.2089A>T) has been identified as cosegregating with a variant in desmoplakin. [Uzumcu et al 2006]
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000039075 SCV001740049 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000039075 SCV001922164 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000039075 SCV001931201 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039075 SCV001954446 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039075 SCV001969325 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV003125833 SCV003802976 benign Cardiomyopathy 2022-09-23 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.