SMAD4 c.403C>T

CI-VAR-00417000Explore in graph →CIViC 5571

Curated evidence

Evidence by cancer (1 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.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Juvenile Polyposis Syndrome1unmapped disease
SMAD4 c.403C>T	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID13244 Martinez et al. reported a Brazilian family with juvenile polyposis syndrome associated with the heterozygous germline SMAD4 c.403C>T (p.Arg135Ter) pathogenic variant. The 18-year-old proband experien… (full text at CIViC) PMID 42670380 · Martinez et al., 2026 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.