KCNT1 NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)

CI-VAR-00049539Explore in graph →p.Met516ValNM_020822.3:c.1546A>GClinVar 280499 rs886041691

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
280499	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Malignant migrating partial seizures of infancy; Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	germline	7	Jan 26, 2026	clinvar