Variant · Snv
SDHB NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
CI-VAR-00027124Explore in graph →p.Ile127SerNM_003000.3:c.380T>GClinVar 183814 rs786201095
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 |
|---|---|---|---|---|---|---|---|---|
| 183814 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Hereditary cancer-predisposing syndrome; Carney triad; Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Hereditary pheochromocytoma and paraganglioma; Mitochondrial complex 2 deficiency, nuclear type 4; Carney-Stratakis syndrome; Inherited phaeochromocytoma and paraganglioma excluding NF1; SDHB-related disorder | germline | 19 | Jan 11, 2026 | clinvar |