Variant · Snv
NDUFS1 NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)
CI-VAR-00022477Explore in graph →p.Ser457=NM_005006.7:c.1371G>AClinVar 138480 rs2230892
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 |
|---|---|---|---|---|---|---|---|---|
| 138480 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1; Mitochondrial complex I deficiency, nuclear type 5; Gastric cancer; Clear cell carcinoma of kidney; Uterine carcinosarcoma; Lung cancer; Malignant lymphoma, large B-cell, diffuse; Colon adenocarcinoma; Colorectal cancer; Sarcoma; Uterine corpus endometrial carcinoma; Ovarian serous cystadenocarcinoma; Thymoma; Nonpapillary renal cell carcinoma; Cervical cancer; Thyroid cancer, nonmedullary, 1; Melanoma; Acute myeloid leukemia; Hepatocellular carcinoma | germline | 8 | Jan 25, 2026 | clinvar |