RYR1 NM_000540.3(RYR1):c.8991C>A (p.Phe2997Leu)

CI-VAR-00120943Explore in graph →p.Phe2997LeuNM_000540.3:c.8991C>AClinVar 665617 rs1377413977

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
665617	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	RYR1-related disorder; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Central core myopathy	germline	5	Jul 09, 2025	clinvar