Variant · Snv
MARS1 NM_004990.4(MARS1):c.2391A>C (p.Thr797=)
CI-VAR-00057227Explore in graph →p.Thr797=NM_004990.4:c.2391A>CClinVar 389593 rs140573721
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 |
|---|---|---|---|---|---|---|---|---|
| 389593 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U; Charcot-Marie-Tooth disease; MARS1-related disorder; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Colon adenocarcinoma; Sarcoma; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Uterine carcinosarcoma; Acute myeloid leukemia; Cervical cancer; Familial cancer of breast | germline | 10 | Jan 18, 2026 | clinvar |