Variant · Snv
GFPT1 NM_001244710.2(GFPT1):c.586G>A (p.Gly196Arg)
CI-VAR-00224436Explore in graph →p.Gly196ArgNM_001244710.2:c.586G>AClinVar 1463126 rs370171865
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 |
|---|---|---|---|---|---|---|---|---|
| 1463126 | Uncertain significance | criteria provided, multiple submitters, no conflicts | 2 | Congenital myasthenic syndrome 12; Nonpapillary renal cell carcinoma | germline | 3 | May 14, 2025 | clinvar |