Variant · Snv
TSC2 Q1178*
CI-VAR-00003478Explore in graph →NP_000539.2:p.Gln1178TerNM_000548.4:c.3532C>TClinVar 49263 CIViC 469 rs45517297
Curated evidence
Evidence by cancer (1 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
- 25295501
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Thyroid Gland Carcinoma1 | ||||||||
| TSC2 Q1178* | Everolimus | Predictive | C | Supports Sensitivity Response | 5 | accepted | EID1108In a phase II trial of everolimus in thyroid cancer (NCT00936858), seven patients with anaplastic thyroid carcinoma were treated, and only one patient achieved an objective response. This 57-year-old … (full text at CIViC) PMID 25295501 · Wagle et al., 2014 · Open in CIViC | civic |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- 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 |
|---|---|---|---|---|---|---|---|---|
| 49263 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Tuberous sclerosis syndrome; Tuberous sclerosis 2 | germline | 4 | Nov 23, 2022 | clinvar |