SMAD4 NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu)

CI-VAR-00112453Explore in graph →p.Met447LeuNM_005359.6:c.1339A>CClinVar 628325 rs1568211184

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
628325	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and aortic dissection; Juvenile polyposis syndrome; Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas	germline	5	Jul 15, 2024	clinvar