Submissions for variant NM_001308093.3(GATA4):c.*1256A>T

gnomAD frequency: 0.34439  dbSNP: rs12458

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001709656	SCV001936643	benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing
H3Africa Consortium	RCV001777170	SCV002014633	benign	not specified	2020-10-28	criteria provided, single submitter	research	While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.375, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Breakthrough Genomics, Breakthrough Genomics	RCV001709656	SCV005272418	benign	not provided		criteria provided, single submitter	not provided
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research	RCV000498386	SCV000590817	pathogenic	Congenital heart disease	2017-01-07	no assertion criteria provided	clinical testing
Reproductive Health Research and Development, BGI Genomics	RCV000498386	SCV001142387	benign	Congenital heart disease	2020-01-06	no assertion criteria provided	curation	NM_002052.3:c.*1256A>T in the gene GATA4 has an allele frequency of 0.376 in African subpopulation in the gnomAD database. 1936 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1; BS2.