Variant
TSC2 Loss-of-function
CI-VAR-00002531Explore in graph →CIViC 2171
Curated evidence
Evidence by cancer (2 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 26831717
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Renal Cell Carcinoma1 | ||||||||
| TSC2 Loss-of-function | MTOR Inhibitor | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID5838In a retrospective study of 79 RCC patients treated with diverse rapalogs (mTOR inhibitors) inactivating TSC1 and TSC2-mutations and activating MTOR-mutations were significantly more common in respons… (full text at CIViC) PMID 26831717 · Kwiatkowski et al., 2016 · Open in CIViC | civic |
| Tuberous Sclerosis1unmapped disease | ||||||||
| TSC2 Loss-of-function | Everolimus | Predictive | A | Supports Sensitivity Response | 5 | submitted | EID7281In phase 3 trial patients with subependymal giant cell astrocytomas related to tuberous sclerosis complex (TSC) were randomly assigned to everolimus or placebo. Tumor response was observed 35% in ever… (full text at CIViC) | |
ClinVar
Clinical significance (0)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
Data not yet available