ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1027G>A (p.Ala343Thr)

gnomAD frequency: 0.00016  dbSNP: rs142601402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803675 SCV000943557 uncertain significance Atrioventricular septal defect 5 2025-01-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 343 of the GATA6 protein (p.Ala343Thr). This variant is present in population databases (rs142601402, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GATA6-related conditions. ClinVar contains an entry for this variant (Variation ID: 648863). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GATA6 protein function with a negative predictive value of 80%. 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 RCV003232111 SCV003929705 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV003396404 SCV004105231 uncertain significance GATA6-related disorder 2022-12-27 criteria provided, single submitter clinical testing The GATA6 c.1027G>A variant is predicted to result in the amino acid substitution p.Ala343Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-19752132-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005029475 SCV005655046 uncertain significance Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9 2024-01-23 criteria provided, single submitter clinical testing

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