ClinVar Miner

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

gnomAD frequency: 0.34439  dbSNP: rs12458
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Total submissions: 4
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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.
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.

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