Variant · Snv
MARS1 NM_004990.4(MARS1):c.1500A>G (p.Lys500=)
CI-VAR-00057226Explore in graph →p.Lys500=NM_004990.4:c.1500A>GClinVar 381454 rs2290297
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 381454 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U; Charcot-Marie-Tooth disease; Ovarian serous cystadenocarcinoma; Thymoma; Thyroid cancer, nonmedullary, 1; Melanoma; Malignant lymphoma, large B-cell, diffuse; Colorectal cancer; Cervical cancer; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Colon adenocarcinoma; Sarcoma; Hepatocellular carcinoma; Familial cancer of breast | germline | 7 | Feb 02, 2026 | clinvar |