NOTCH1 NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)

CI-VAR-00199481Explore in graph →p.Ala18ThrNM_017617.5:c.52G>AClinVar 1243966 rs754613772

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
1243966	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Adams-Oliver syndrome 5; Myeloproliferative neoplasm, unclassifiable; Aortic valve disease 1; Familial thoracic aortic aneurysm and aortic dissection; NOTCH1-related disorder	germline/somatic	7	Jul 20, 2025	clinvar