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Methods: Online 1000 Genomes Project, ExAC, gnomAD, GO-ESP, TOPMed, Iranome, GME, ClinVar, and HGMD databases were drawn upon to collect information on all the reported GATA4 variations.The functional importance of the genetic variants was assessed by using SIFT, MutationTaster, CADD,PolyPhen-2, PROVEAN, and GERP prediction tools. Thereafter, network analysis of the GATA4protein via STRING, normal\/mutant protein structure prediction via HOPE and I-TASSER, and phylogenetic assessment of the GATA4 sequence alignment via ClustalW were performed. Results: The most frequent variant was c.874T&gt;C (45.58%), which was reported in Germany.Ventricular septal defect was the most frequent type of CHD. Out of all the reported variants of GATA4,38 variants were pathogenic. A high level of pathogenicity was shown for p.Gly221Arg (CADD score=31), which was further analyzed. Conclusion: The GATA4 gene plays a significant role in CHD; we, therefore, suggest that it be accorded priority in CHD genetic screening. <\/jats:p>","DOI":"10.34172\/jcvtr.2021.45","type":"journal-article","created":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T10:29:31Z","timestamp":1638354571000},"page":"336-354","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<i>In silico<\/i> analysis of <i>GATA4<\/i> variants demonstrates main contribution to congenital heart disease"],"prefix":"10.34172","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6470-335X","authenticated-orcid":true,"given":"Shiva","family":"Abbasi","sequence":"first","affiliation":[{"name":"Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neda","family":"Mohsen-Pour","sequence":"additional","affiliation":[{"name":"Zanjan Pharmaceutical Biotechnology Research Center, Zanjan University of Medical Sciences, Zanjan, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niloofar","family":"Naderi","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahin","family":"Rahimi","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Rajaie Cardiovascular Medical and Research Centre, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Maleki","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3499-044X","authenticated-orcid":true,"given":"Samira","family":"Kalayinia","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"20123","published-online":{"date-parts":[[2021,11,1]]},"reference":[{"doi-asserted-by":"publisher","key":"R1","DOI":"10.3390\/biom9120879"},{"doi-asserted-by":"publisher","key":"R2","DOI":"10.1371\/journal.pone.0153999"},{"doi-asserted-by":"publisher","key":"R3","DOI":"10.1097\/hco.0000000000000274"},{"unstructured":"Ferencz C, Loffredo CA, Rubin JD, Magee CA. 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