RYR1 NM_000540.3(RYR1):c.8843C>G (p.Ser2948Trp)

CI-VAR-00107961Explore in graph →p.Ser2948TrpNM_000540.3:c.8843C>GClinVar 580917 rs759514075

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
580917	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	RYR1-related disorder; Central core myopathy; King Denborough syndrome; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion	germline	3	Jun 24, 2025	clinvar