ClinVar Miner

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

dbSNP: rs116052854
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Total submissions: 4
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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 ( 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.

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