ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val)

gnomAD frequency: 0.00326  dbSNP: rs55633527
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227672 SCV000287297 benign Atrioventricular septal defect 4 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619266 SCV000735707 benign Cardiovascular phenotype 2017-01-03 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.
GeneDx RCV001668394 SCV001887945 benign not provided 2020-03-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32748548, 18055909, 20874241, 21631294, 20363377, 12939651)
Fulgent Genetics, Fulgent Genetics RCV002494642 SCV002809498 likely benign Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease 2022-02-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001668394 SCV002821875 benign not provided 2024-04-01 criteria provided, single submitter clinical testing GATA4: BS1, BS2
University of Washington Center for Mendelian Genomics, University of Washington RCV001753695 SCV001761939 likely pathogenic Thoracic aortic aneurysm no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004020785 SCV004771574 benign GATA4-related disorder 2019-07-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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