ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) (rs28936670)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037968 SCV000061634 benign not specified 2012-01-31 criteria provided, single submitter clinical testing Arg25Cys in exon 1 of NKX2-5: This variant has been reported in a large number o f individuals with congenital heart disease (Akcaboy 2008, Benson 1999, DeLuca 2 010, Esposito 2009, Goli-Pereira 2010, Goldmuntz 2001, McElhinny 2003, Raunch 20 10, Stallmeyer 2010). This variant is now considered to be benign based on its h igh population frequency (2.6%) in the Black population (97/3694 chromosomes, NH LBI Exome Variant Project http://evs.gs.washington.edu/EVS/).
Genetic Services Laboratory, University of Chicago RCV000037968 SCV000194075 uncertain significance not specified 2015-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000037968 SCV000223572 benign not specified 2015-08-21 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 RCV000987632 SCV000262103 benign Atrial septal defect 7 with or without atrioventricular conduction defects 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037968 SCV000310346 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000619696 SCV000735169 benign Cardiovascular phenotype 2015-08-04 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Mendelics RCV000987632 SCV001137025 likely benign Atrial septal defect 7 with or without atrioventricular conduction defects 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000009572 SCV000029790 pathogenic Tetralogy of Fallot 2011-08-01 no assertion criteria provided literature only
OMIM RCV000009573 SCV000029791 pathogenic Hypothyroidism, congenital, nongoitrous, 5 2011-08-01 no assertion criteria provided literature only
OMIM RCV000023017 SCV000044308 pathogenic Interrupted aortic arch 2011-08-01 no assertion criteria provided literature only
OMIM RCV000023018 SCV000044309 pathogenic Truncus arteriosus 2011-08-01 no assertion criteria provided literature only
OMIM RCV000023019 SCV000044310 pathogenic Hypoplastic left heart syndrome 2 2011-08-01 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000030339 SCV000053006 benign Congenital heart disease 2015-06-04 no assertion criteria provided clinical testing

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