ClinVar Miner

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

gnomAD frequency: 0.01082  dbSNP: rs28936670
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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 This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Mendelics RCV000987632 SCV001137025 likely benign Atrial septal defect 7 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311655 SCV004011640 benign not provided 2023-06-01 criteria provided, single submitter clinical testing NKX2-5: BS1, BS2
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 Aortic arch interruption 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030339 SCV000053006 benign Congenital heart disease 2015-06-04 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.