ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1082A>G (p.Glu361Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005200670 SCV005835339 uncertain significance Atrioventricular septal defect 4 2024-06-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 360 of the GATA4 protein (p.Glu360Gly). This variant is present in population databases (rs749880626, gnomAD 0.006%). This missense change has been observed in individual(s) with ventricular septal defect (PMID: 23626780, 29377543). 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 GATA4 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects GATA4 function (PMID: 23626780). 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.

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