ClinVar Miner

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

dbSNP: rs1453901762
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.

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