GNE NM_005476.7(GNE):c.1892C>T (p.Ala631Val)

CI-VAR-00005542Explore in graph →p.Ala631ValNM_005476.7:c.1892C>TClinVar 6035 rs62541771

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
6035	Pathogenic	criteria provided, multiple submitters, no conflicts	2	GNE myopathy; Sialuria; Hereditary nonpolyposis colon cancer; Thrombocytopenia 12 with or without myopathy; Bleeding and platelet disorders; GNE-related disorders	germline	20	Jul 24, 2026	clinvar