Variant · Snv
MTO1 NM_012123.4(MTO1):c.1918-7T>G
CI-VAR-00022458Explore in graph →NM_012123.4:c.1918-7T>GClinVar 138278 rs73452515
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 |
|---|---|---|---|---|---|---|---|---|
| 138278 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency; MTO1-related disorder; Uterine carcinosarcoma; Cholangiocarcinoma; Thymoma; Acute myeloid leukemia; Malignant tumor of esophagus; Lung cancer; Cervical cancer; Familial cancer of breast; Uterine corpus endometrial carcinoma; Sarcoma; Gastric cancer; Ovarian serous cystadenocarcinoma | germline | 5 | Feb 03, 2026 | clinvar |