ClinVar Miner

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

gnomAD frequency: 0.00025  dbSNP: rs146245480
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 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; Hypertrophic cardiomyopathy 20 2023-12-04 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
PreventionGenetics, part of Exact Sciences RCV003934850 SCV004752242 likely benign NEXN-related condition 2019-06-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000023985 SCV000045276 pathogenic 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

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