TTPA NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)

CI-VAR-00014444Explore in graph →p.Arg221TrpNM_000370.3:c.661C>TClinVar 65597 rs35916840

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
65597	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Familial isolated deficiency of vitamin E; TTPA-related disorder; Gastric cancer; Malignant tumor of esophagus; CHD7-related CHARGE syndrome	germline	11	Jan 27, 2026	clinvar