SMAD4 NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu)

CI-VAR-00030940Explore in graph →p.Gln248LeuNM_005359.6:c.743A>TClinVar 185388 rs751985298

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
185388	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissection; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; SMAD4-related disorder	germline	10	Oct 06, 2025	clinvar