SDHC germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-SDHC-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | SDHC germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-BCELL-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "SDHC", "gene_hugo_id": "HGNC:10683", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
SDHC germline — drives hereditary paraganglioma-pheochromocytoma syndrome (PGL3). Predominantly head-and-neck paraganglioma (typically benign, low malignant potential vs SDHB). SDH-deficient GIST + rare RCC. Lower lifetime penetrance than SDHB/SDHD. Annual biochemistry (metanephrines) + whole-body MRI surveillance per NCCN. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.