RYR1 NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)

CI-VAR-00053352Explore in graph →p.Val3050IleNM_000540.3:c.9148G>AClinVar 329086 rs200797340

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
329086	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	RYR1-related disorder; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Central core myopathy; King Denborough syndrome	germline	7	Jan 28, 2026	clinvar