ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.535A>T (p.Lys179Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Hematology-Oncology Program,Instituto Nacional de Cancer RCV001281374 SCV001468666 pathogenic multilineage dysplasia 2020-07-27 criteria provided, single submitter clinical testing Germline GATA2 pathological variant identified in a 16-year-old adolescent with multilineage dysplasia (MDS) and acute myeloid leukemia (remission sample) who had long-stand peripheral warts and familial history of morbidities associated with GATA2 haplodeficiency - older brother died at the age of 13 years with MDS and mother with bilateral lymphedema since puberty and died at a young age of unknown cause. The father and a younger brother are healthy, but the former did not allow further analysis. The variant is located in GATA2 exon 3, 336 bp upstream of the junction between exons 3 and 4, and is fitted in the category of truncating mutations proximal to the C-finger type.

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