ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.266G>A (p.Trp89Ter)

dbSNP: rs2130068999
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001963090 SCV002245358 pathogenic Atrioventricular septal defect 4 2021-07-29 criteria provided, single submitter clinical testing 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Trp89*) 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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