ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1149G>A (p.Gln383=)

gnomAD frequency: 0.00001  dbSNP: rs751950851
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771391 SCV002002627 uncertain significance not provided 2022-10-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing
Fulgent Genetics, Fulgent Genetics RCV002488595 SCV002781168 uncertain significance Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease 2021-07-12 criteria provided, single submitter clinical testing
Invitae RCV002540543 SCV003278928 uncertain significance Atrioventricular septal defect 4 2023-09-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1314160). This variant has not been reported in the literature in individuals affected with GATA4-related conditions. This variant is present in population databases (rs751950851, gnomAD 0.008%). This sequence change affects codon 382 of the GATA4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GATA4 protein. This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.