ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1628C>G (p.Ala543Gly)

gnomAD frequency: 0.00004  dbSNP: rs761668180
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818638 SCV000959262 uncertain significance Atrioventricular septal defect 5 2024-03-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 543 of the GATA6 protein (p.Ala543Gly). This variant is present in population databases (rs761668180, gnomAD 0.005%). This missense change has been observed in individual(s) with atrial fibrillation (PMID: 27756709). ClinVar contains an entry for this variant (Variation ID: 661255). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GATA6 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change does not substantially affect GATA6 function (PMID: 27756709). 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.
GeneDx RCV005054272 SCV005687965 uncertain significance not provided 2024-07-28 criteria provided, single submitter clinical testing Identified in a patient with early-onset atrial fibrillation (AF) in published literature (PMID: 27756709); A published functional study suggests that the p.(A543G) variant has no altered function (PMID: 27756709); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27756709)

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.