ClinVar Miner

Submissions for variant NM_005257.5(GATA6):c.551G>A (p.Ser184Asn) (rs387906816)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000990075 SCV001002831 likely benign Atrioventricular septal defect 5 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990075 SCV001140855 benign Atrioventricular septal defect 5 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000023131 SCV000044422 pathogenic Atrial septal defect 9 2010-10-01 no assertion criteria provided literature only
OMIM RCV000023132 SCV000044423 pathogenic Tetralogy of Fallot 2010-10-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000023131 SCV001142479 likely pathogenic Atrial septal defect 9 2020-01-06 no assertion criteria provided curation NM_005257.4:c.551G>A in the GATA6 gene has an allele frequency of 0.009 in East Asia subpopulation in the gnomAD database. Functional studies demonstrate that this variant clearly decreased transcriptional activity of GATA6 Ser184Asn in vitro (PMID: 20631719). In addition, Wang et al. identified c.551G>A in a patient with Tetralogy of Fallot. His parents had normal cardiac morphology and there were no GATA6 sequence variants identified, indicating a de novo event (PMID: 24841381). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP criteria applied: PS3; PM2; PM6;

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