BCKDHA NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)

CI-VAR-00018125Explore in graph →p.Ala285ProNM_000709.4:c.853G>CClinVar 93375 rs398123508

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
93375	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Maple syrup urine disease; Maple syrup urine disease type 1A; Cervical cancer; BCKDHA-related disorder	germline	12	Jun 15, 2026	clinvar