RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)

CI-VAR-00020676Explore in graph →p.Arg3772GlnNM_000540.3:c.11315G>AClinVar 133012 rs193922839

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
133012	Pathogenic/Likely pathogenic	reviewed by expert panel	3	Progressive distal muscle weakness; Pelvic girdle muscle weakness; Delayed gross motor development; Proximal muscle weakness; Scoliosis; Malignant hyperthermia of anesthesia; Neuromuscular disease; RYR1-related disorder; Malignant hyperthermia, susceptibility to, 1; Inborn genetic diseases; Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; RYR1-related myopathy	germline	17	Aug 01, 2025	clinvar