ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala)

gnomAD frequency: 0.00001  dbSNP: rs1217555878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560790 SCV001783269 uncertain significance not provided 2020-09-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV001865976 SCV002161538 uncertain significance Atrioventricular septal defect 4 2022-08-09 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1197085). This variant has not been reported in the literature in individuals affected with GATA4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 413 of the GATA4 protein (p.Pro413Ala).
Fulgent Genetics, Fulgent Genetics RCV002476861 SCV002804094 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 2022-05-19 criteria provided, single submitter clinical testing

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