POLE NM_006231.4(POLE):c.1661G>A (p.Ser554Asn)

CI-VAR-00067472Explore in graph →p.Ser554AsnNM_006231.4:c.1661G>AClinVar 423226 rs1028317886

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
423226	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Colorectal cancer, susceptibility to, 12; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency; Hereditary cancer-predisposing syndrome	germline	4	Jan 12, 2026	clinvar