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
Invitae 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
PreventionGenetics, part of Exact Sciences RCV004020785 SCV004771574 benign GATA4-related disorder 2019-07-26 criteria provided, single submitter 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).
University of Washington Center for Mendelian Genomics, University of Washington RCV001753695 SCV001761939 likely pathogenic Thoracic aortic aneurysm no assertion criteria provided research

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