POLE NM_006231.4(POLE):c.154C>T (p.Arg52Trp)

CI-VAR-00044238Explore in graph →p.Arg52TrpNM_006231.4:c.154C>TClinVar 240396 rs115452881

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
240396	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Hereditary cancer-predisposing syndrome; Hereditary cancer; POLE-related disorder; Familial colorectal cancer type X; Polymerase proofreading-related adenomatous polyposis; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	germline	16	Jan 21, 2026	clinvar