SMAD4 NM_005359.6(SMAD4):c.745C>A (p.Gln249Lys)

CI-VAR-00355514Explore in graph →p.Gln249LysNM_005359.6:c.745C>AClinVar 3386027

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
3386027	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome	germline	2	Oct 24, 2024	clinvar