DDX41 NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)

CI-VAR-00169430Explore in graph →p.Gln48TerNM_016222.4:c.142C>TClinVar 978209 rs377745714

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
978209	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Acute myeloid leukemia; DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic diseases; DDX41-related disorders	germline	7	Jan 21, 2026	clinvar