Variant · Snv
CACNA1S NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)
CI-VAR-00102843Explore in graph →p.Arg174TrpNM_000069.3:c.520C>TClinVar 575733 rs772226819
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 |
|---|---|---|---|---|---|---|---|---|
| 575733 | drug response | reviewed by expert panel | 3 | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; desflurane response - Toxicity; succinylcholine response - Toxicity; enflurane response - Toxicity; halothane response - Toxicity; isoflurane response - Toxicity; methoxyflurane response - Toxicity; sevoflurane response - Toxicity; Malignant hyperthermia of anesthesia; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18; Inborn genetic diseases | germline | 18 | Mar 24, 2021 | clinvar |