POLE NM_006231.4(POLE):c.1738C>A (p.His580Asn)

CI-VAR-00062551Explore in graph →p.His580AsnNM_006231.4:c.1738C>AClinVar 405759 rs371149234

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
405759	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Colorectal cancer, susceptibility to, 12; Polymerase proofreading-related adenomatous polyposis; Hereditary cancer-predisposing syndrome; POLE-related disorder; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	germline	14	Jan 27, 2026	clinvar