POLE NM_006231.4(POLE):c.1041G>T (p.Trp347Cys)

CI-VAR-00085797Explore in graph →p.Trp347CysNM_006231.4:c.1041G>TClinVar 484505 rs1048183984

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
484505	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	germline	5	Jan 09, 2026	clinvar