SMAD4 NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr)

CI-VAR-00042148Explore in graph →p.Pro246ThrNM_005359.6:c.736C>AClinVar 232751 rs876659967

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
232751	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Heritable Thoracic Aortic Disease; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Early age onset of sporadic thoracic aortic dissections; Juvenile polyposis syndrome; Myhre syndrome; Familial thoracic aortic aneurysm and aortic dissection	germline	10	Sep 11, 2025	clinvar