Variant · Snv
GAA NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
CI-VAR-00049722Explore in graph →p.Gln429ArgNM_000152.5:c.1286A>GClinVar 284497 rs200294882
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 |
|---|---|---|---|---|---|---|---|---|
| 284497 | Benign | reviewed by expert panel | 3 | Glycogen storage disease, type II; Cardiomyopathy; Cardiovascular phenotype; Thyroid cancer, nonmedullary, 1; Hepatocellular carcinoma; Familial cancer of breast; Malignant lymphoma, large B-cell, diffuse; Gastric cancer; Malignant tumor of urinary bladder; Malignant tumor of esophagus | germline | 13 | Jan 22, 2020 | clinvar |