GATA2 NM_032638.5(GATA2):c.1248G>C (p.Glu416Asp)

CI-VAR-00095221Explore in graph →p.Glu416AspNM_032638.5:c.1248G>CClinVar 539710 rs1553770425

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
539710	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia syndrome; Inborn genetic diseases	germline	2	Jan 06, 2026	clinvar