ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.686G>A (p.Trp229Ter)

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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 RCV005113084 SCV005729321 pathogenic Atrioventricular septal defect 4 2024-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp228*) in the GATA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GATA4 are known to be pathogenic (PMID: 12845333, 15235040). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GATA4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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