ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1078G>T (p.Glu360Ter)

dbSNP: rs368489876
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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 RCV001242926 SCV001416048 pathogenic Atrioventricular septal defect 4 2022-11-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 967905). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GATA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu359*) 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).

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