SMAD4 NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)

CI-VAR-00026979Explore in graph →p.Ala226ValNM_005359.6:c.677C>TClinVar 182869 rs539739051

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
182869	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Myhre syndrome; Hereditary cancer-predisposing syndrome; Carcinoma of pancreas; Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissection; SMAD4-related disorder; Familial pancreatic carcinoma	germline	15	Jan 19, 2026	clinvar