RYR1 NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)

CI-VAR-00020823Explore in graph →p.Glu3104LysNM_000540.3:c.9310G>AClinVar 133240 rs193922832

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
133240	Likely pathogenic; drug response	reviewed by expert panel	3	RYR1-related disorder; desflurane response - Toxicity; enflurane response - Toxicity; halothane response - Toxicity; isoflurane response - Toxicity; sevoflurane response - Toxicity; methoxyflurane response - Toxicity; succinylcholine response - Toxicity; Malignant hyperthermia, susceptibility to, 1	germline	9	Aug 01, 2025	clinvar