CYP11A1 NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val)

CI-VAR-00006462Explore in graph →p.Ala189ValNM_000781.3:c.566C>TClinVar 17518 rs121912811

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
17518	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Glioma susceptibility 1	germline	5	Sep 10, 2025	clinvar