RYR1 NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)

CI-VAR-00109607Explore in graph →p.Ile2781fsNM_000540.3:c.8342_8343delClinVar 590611 rs758580075

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
590611	Pathogenic	criteria provided, multiple submitters, no conflicts	2	RYR1-related disorder; Congenital multicore myopathy with external ophthalmoplegia; Malignant hyperthermia, susceptibility to, 1; King Denborough syndrome; Central core myopathy; Centronuclear myopathy	germline	12	May 20, 2026	clinvar