ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) (rs146245480)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041184 SCV000064875 likely benign not specified 2012-08-13 criteria provided, single submitter clinical testing Arg279Cys in exon 8 of NEXN: This variant has been reported in 1 Asian individua l with HCM, segregated in 2 affected relatives, was absent from 384 race-matched control chromosomes, and resulted in a local accumulation of the protein in cel l culture studies (Wang 2010). However, this variant has been identified in 1.3% (5/394) of Han Chinese chromosomes from a broad population by the 1000 Genomes project (dbSNP rs146245480). At this frequency this variant is most likely beni gn though a modifying role cannot be excluded.
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000023985 SCV000267418 uncertain significance Familial hypertrophic cardiomyopathy 20 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV001719699 SCV000515693 likely benign not provided 2019-09-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23840593, 24503780, 20970104, 32344918)
Invitae RCV000460527 SCV000560172 benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-11-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769818 SCV000901244 benign Cardiomyopathy 2019-01-21 criteria provided, single submitter clinical testing
OMIM RCV000023985 SCV000045276 pathogenic Familial hypertrophic cardiomyopathy 20 2010-11-12 no assertion criteria provided literature only
Blueprint Genetics RCV000143936 SCV000188814 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-01-30 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.