RYR1 NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)

CI-VAR-00150945Explore in graph →p.Ile2781ThrNM_000540.3:c.8342T>CClinVar 847990 rs767805554

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
847990	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	RYR1-related disorder; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome	germline	6	Jan 20, 2026	clinvar