ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.825C>T (p.Cys275=)

gnomAD frequency: 0.00275  dbSNP: rs55980825
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Total submissions: 16
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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 RCV000037324 SCV000060981 benign not specified 2016-04-07 criteria provided, single submitter clinical testing p.Cys274Cys in exon 4 of GATA4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.3% (202/66414) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs55980825).
Invitae RCV000228063 SCV000287300 benign Atrioventricular septal defect 4 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249584 SCV000318063 likely benign Cardiovascular phenotype 2016-09-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Genetic Services Laboratory, University of Chicago RCV000037324 SCV000594925 likely benign not specified 2016-11-04 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577946 SCV000679863 uncertain significance Atrial septal defect 2 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000228063 SCV000679864 uncertain significance Atrioventricular septal defect 4 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578059 SCV000679865 uncertain significance Primary dilated cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577944 SCV000679866 uncertain significance Tetralogy of Fallot 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578024 SCV000679867 uncertain significance Ventricular septal defect 1 2017-08-01 criteria provided, single submitter clinical testing
GeneDx RCV001529780 SCV001788823 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30590232, 30229885, 28381408, 20874241, 24033266, 27374936, 18076106, 18055909, 12939651)
CeGaT Center for Human Genetics Tuebingen RCV001529780 SCV004164377 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing GATA4: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529780 SCV001743847 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529780 SCV001932976 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529780 SCV001955233 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529780 SCV001975912 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529780 SCV002036098 likely benign not provided no assertion criteria provided clinical testing

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