TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)

CI-VAR-00006069Explore in graph →p.Arg495TerNM_003242.6:c.1483C>TClinVar 12519 rs104893819

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
12519	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Loeys-Dietz syndrome 2; Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic dissection; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6; Cardiovascular phenotype	germline	8	Dec 11, 2025	clinvar