Variant · Deletion
SDHA NM_004168.4(SDHA):c.1012del (p.Ala338fs)
CI-VAR-00183266Explore in graph →p.Ala338fsNM_004168.4:c.1012delClinVar 1070947 rs1295239305
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 |
|---|---|---|---|---|---|---|---|---|
| 1070947 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paraganglioma syndrome 5; Hereditary cancer-predisposing syndrome; Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and late-onset optic atrophy | germline | 4 | Nov 05, 2025 | clinvar |