TSC1 (hamartin) 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-TSC1-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | TSC1 (хамартин) germline патогенний варіантTSC1 germline pathogenic variant |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-RCC |
| Sources | SRC-NCCN-CNS-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "TSC1", "gene_hugo_id": "HGNC:12362", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
TSC1 germline — drives Tuberous Sclerosis Complex (TSC). mTOR-pathway hyperactivation. Tumors: subependymal giant cell astrocytoma (SEGA), renal angiomyolipomas (AML), lymphangioleiomyomatosis (LAM, females), cardiac rhabdomyomas, cortical tubers. mTOR inhibitors (everolimus, sirolimus) are active across SEGA / renal AML / LAM. STUB pending two-Co-Lead signoff.
Used By
Actionability
BMA-TSC1-GERMLINE-TUBEROUS-SCLEROSIS- TSC1 germline pathogenic variants drive Tuberous Sclerosis Complex (TSC) — an mTOR-pathwa...