POLE NM_006231.4(POLE):c.955G>A (p.Asp319Asn)

CI-VAR-00085265Explore in graph →p.Asp319AsnNM_006231.4:c.955G>AClinVar 484551 rs116162724

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
484551	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Colorectal cancer, susceptibility to, 12; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency; Familial colorectal cancer type X; Polymerase proofreading-related adenomatous polyposis	germline	5	Jan 19, 2026	clinvar