Variant · Snv
ITPR1 NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)
CI-VAR-00051009Explore in graph →p.Ala19=NM_001378452.1:c.57G>AClinVar 345338 rs200534989
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 |
|---|---|---|---|---|---|---|---|---|
| 345338 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Autosomal dominant cerebellar ataxia; Spinocerebellar ataxia type 29; Gillespie syndrome; Spinocerebellar ataxia type 15/16; Thyroid cancer, nonmedullary, 1 | germline | 7 | Jan 25, 2026 | clinvar |