ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.405_409delinsGTA (p.Gly136fs)

dbSNP: rs1576749014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000984837 SCV001132724 likely pathogenic not provided 2018-06-04 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003444729 SCV004171389 pathogenic Myelodysplastic syndrome 2023-11-06 criteria provided, single submitter clinical testing The GATA2 c.405_409delinsGTA (p.Gly136TyrfsTer48) change creates a frameshift and a premature stop codon. This change is predicted to cause protein truncation or absence of protein due to nonsense-mediated decay. To our knowledge, this variant has not been reported in the literature in individuals presenting with GATA2-associated clinical phenotypes. It is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). In summary, this variant meets criteria to be classified as pathogenic.

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