ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)

gnomAD frequency: 0.00145  dbSNP: rs115372595
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001537190 SCV007333184 likely benign not provided 2025-03-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001537190 SCV005220543 likely benign not provided criteria provided, single submitter not provided
GeneDx RCV001537190 SCV001754041 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31962012, 20592452, 22011241, 25093829, 26997702, 29368431, 26014430, 27899157, 17643447, 20981092)
Ambry Genetics RCV000617346 SCV000735099 likely benign Cardiovascular phenotype 2021-11-09 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 RCV000503266 SCV000594928 likely benign not specified 2016-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000023005 SCV000287293 likely benign Atrioventricular septal defect 4 2026-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004018666 SCV004766511 likely benign GATA4-related disorder 2021-01-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Reproductive Development, Murdoch Childrens Research Institute RCV001007693 SCV001146890 benign 46,XY sex reversal 3 2019-08-26 no assertion criteria provided research
OMIM RCV000023005 SCV000044296 pathogenic Atrioventricular septal defect 4 2007-12-01 no assertion criteria provided literature only

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