Variant · Snv
ITPR1 NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val)
CI-VAR-00050765Explore in graph →p.Ala911ValNM_001378452.1:c.2732C>TClinVar 345716 rs201519806
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 345716 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Autosomal dominant cerebellar ataxia; Spinocerebellar ataxia type 29; Inborn genetic diseases; Spinocerebellar ataxia type 15/16; Gillespie syndrome; Gastric cancer; Thymoma; Melanoma; Acute myeloid leukemia; Uterine corpus endometrial carcinoma; Lung cancer; Clear cell carcinoma of kidney; Malignant tumor of urinary bladder; Familial cancer of breast | germline | 10 | Jan 12, 2026 | clinvar |