Variant · Snv
MACF1 NM_001394062.1(MACF1):c.14369C>T (p.Ala4790Val)
CI-VAR-00286958Explore in graph →p.Ala4790ValNM_001394062.1:c.14369C>TClinVar 2067606 rs139258331
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 |
|---|---|---|---|---|---|---|---|---|
| 2067606 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Inborn genetic diseases; Lissencephaly 9 with complex brainstem malformation; MACF1-related disorder; Cervical cancer | germline | 8 | Jun 04, 2025 | clinvar |