Variant · Snv
MTHFR NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
CI-VAR-00005372Explore in graph →p.Glu429AlaNM_005957.5:c.1286A>CClinVar 3521 rs1801131
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 |
|---|---|---|---|---|---|---|---|---|
| 3521 | Benign/Likely benign; other | criteria provided, multiple submitters, no conflicts | 2 | MTHFR THERMOLABILE POLYMORPHISM; Schizophrenia, susceptibility to; Gastrointestinal stromal tumor; Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydrofolate reductase deficiency; MTHFR-related disorder; Schizophrenia; Thrombophilia due to thrombin defect; Stroke disorder | germline | 23 | Feb 04, 2026 | clinvar |