ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.48_71del (p.Tyr18_Ala25del)

dbSNP: rs1453901762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217674 SCV001389523 pathogenic Atrioventricular septal defect 4 2023-07-14 criteria provided, single submitter clinical testing This variant, c.48_71del, results in the deletion of 8 amino acid(s) of the GATA4 protein (p.Tyr18_Ala25del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.005%). 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: 946748). This variant disrupts a region of the GATA4 protein in which other variant(s) (p.Gly21Val) have been determined to be pathogenic (PMID: 21055141, 21373748). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004794507 SCV005414848 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 8 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function

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