ALMS1 NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)

CI-VAR-00037142Explore in graph →p.Leu940TerNM_001378454.1:c.2819T>AClinVar 224801 rs539612316

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
224801	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Alstrom syndrome; Cardiovascular phenotype; Lung cancer; ALMS1-related disorder	germline	13	Apr 29, 2026	clinvar