SMAD4 NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter)

CI-VAR-00143019Explore in graph →p.Ser343TerNM_005359.6:c.1028C>GClinVar 822036 rs1599195400

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
822036	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; Colorectal cancer	germline/somatic	3	Oct 23, 2025	clinvar