Variant · Snv
RYR1 NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
CI-VAR-00008488Explore in graph →p.Cys3402GlyNM_000540.3:c.10204T>GClinVar 42098 rs367543058
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.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 42098 | Pathogenic | reviewed by expert panel | 3 | Congenital myopathy with fiber type disproportion; Central core myopathy; RYR1-related disorder; Malignant hyperthermia, susceptibility to, 1; RYR1-related myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome | germline | 15 | Feb 10, 2025 | clinvar |