GATA2 NM_032638.5(GATA2):c.1243G>A (p.Glu415Lys)

CI-VAR-00095222Explore in graph →p.Glu415LysNM_032638.5:c.1243G>AClinVar 539715 rs1345163538

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
539715	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; GATA2 deficiency with susceptibility to MDS/AML; Inborn genetic diseases	germline	3	Jul 16, 2025	clinvar