ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.835C>T (p.Arg279Cys) (rs146245480)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics, RCV000143936 SCV000188814 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-01-30 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769818 SCV000901244 uncertain significance Cardiomyopathy 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000041184 SCV000515693 likely benign not specified 2017-08-15 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.
Invitae RCV000460527 SCV000560172 benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2017-12-29 criteria provided, single submitter clinical testing
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.
OMIM RCV000023985 SCV000045276 pathogenic Familial hypertrophic cardiomyopathy 20 2010-11-12 no assertion criteria provided literature only
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

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