Variant · Snv
MAGT1 NM_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)
CI-VAR-00320543Explore in graph →p.Ala17ThrNM_001367916.1:c.49G>AClinVar 2782795 rs2077095472
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 |
|---|---|---|---|---|---|---|---|---|
| 2782795 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia; Linear skin defects with multiple congenital anomalies 2; Congenital disorder of glycosylation, type ICC | germline | 2 | Sep 20, 2024 | clinvar |