Submissions for variant NM_001308093.3(GATA4):c.1149+129C>T

dbSNP: rs116052854

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001534463	SCV001751395	likely benign	not provided	2018-09-11	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV004017651	SCV004848594	benign	not specified	2021-11-09	criteria provided, single submitter	clinical testing	The c.1146+129C>T variant in GATA4 is classified as benign because it has been identified in 3.38% (294/8710) of African/African-American chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP codes applied: BA1
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research	RCV000497522	SCV000590813	pathogenic	Congenital heart disease	2017-01-07	no assertion criteria provided	clinical testing
Reproductive Health Research and Development, BGI Genomics	RCV000497522	SCV001142383	benign	Congenital heart disease	2020-01-06	no assertion criteria provided	curation	NG_008177.2(NM_002052.4):c.1146+129C>T in the GATA4 gene has an allele frequency of 0.034 in African subpopulation in the gnomAD database. 8 homozygous occurrences are observed in the gnomAD database. Benign computational verdict because benign prediction from DANN. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2, BP4.