BCKDHA NM_000709.4(BCKDHA):c.853+2T>C

CI-VAR-00272999Explore in graph →NM_000709.4:c.853+2T>CClinVar 2175355 rs558254502

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
2175355	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Maple syrup urine disease; Malignant tumor of esophagus; Maple syrup urine disease type 1A	germline	4	Sep 14, 2025	clinvar