ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.623T>C (p.Met208Thr)

gnomAD frequency: 0.00008  dbSNP: rs140892695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001872687 SCV002145535 uncertain significance Atrioventricular septal defect 4 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 207 of the GATA4 protein (p.Met207Thr). This variant is present in population databases (rs140892695, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GATA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1372032). 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. 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.
Ambry Genetics RCV002361140 SCV002659376 uncertain significance Cardiovascular phenotype 2018-10-18 criteria provided, single submitter clinical testing The p.M207T variant (also known as c.620T>C), located in coding exon 2 of the GATA4 gene, results from a T to C substitution at nucleotide position 620. The methionine at codon 207 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002503444 SCV002814991 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 2021-08-02 criteria provided, single submitter clinical testing

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