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Gene TSC1
Variant E801*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions TSC1 E801* results in a premature truncation of the Tsc1 protein at amino acid 801 of 1164 (UniProt.org). E801* has not been characterized in the scientific literature and therefore, its effect on Tsc1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 E801*

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Transcript NM_000368.5
gDNA chr9:g.132901690C>A
cDNA c.2401G>T
Protein p.E801*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000368.4 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TSC1 mutant bladder carcinoma sensitive Everolimus Phase II Actionable A retrospective study of a Phase II trial correlated increased sensitivity to the mTOR inhibitor Afinitor (everolimus) with TSC1 mutations in bladder cancer patients (PMID: 22923433). 22923433
TSC1 mutant lung non-small cell carcinoma no benefit Vistusertib Case Reports/Case Series Actionable In a Phase II trial (NLMT), Vistusertib (AZD2014) treatment did not result in a confirmed response (0/5) or durable clinical benefit (0/5) in patients with non-small cell lung cancer harboring TSC1 or TSC2 mutations, thus the cohort was closed due to futility (PMID: 32669708, NCT02664935). 32669708
TSC1 mutant subependymal giant cell astrocytoma predicted - sensitive Everolimus Phase III Actionable In a Phase III trial (EXIST-1), Afinitor (everolimus) treatment resulted in a 50% or more tumor reduction in 35% (27/78) of adult and pediatric patients diagnosed with tuberous sclerosis complex and had subependymal giant cell astrocytoma, compared to 0% (0/39) in the placebo group, 85% (99/117) of the patients harbored mutations in TSC1 and/or TSC2 (PMID: 23158522; NCT00789828). 23158522
TSC1 mutant hepatocellular carcinoma decreased response Sorafenib Clinical Study - Cohort Actionable In a clinical case study, Nexavar (sorafenib) treatment of patients with hepatocellular carcinoma harboring Mtor pathway mutations in PIK3CA, PTEN, TSC2, or TSC1 (n=12), resulted in a lower disease control rate (8.3% vs. 40.2%), shorter progression-free survival (1.9 months vs. 5.3 months) and shorter overall survival (10.4 months vs. 17.9 months) compared to patients without mutations in this pathway (n=67) (PMID: 30373752; NCT01775072). 30373752
TSC1 mutant renal cell carcinoma conflicting Everolimus Case Reports/Case Series Actionable In a clinical study, treatment with Afinitor (everolimus) or Torisel (temsirolimus) resulted in more partial responses (odds ratio = 0.08, p=0.030) in patients with renal cell carcinoma harboring mTOR pathway mutations, including MTOR (n=8), TSC1 (n=1), and TSC2 (n=2), than those without mutations (n=76) (PMID: 31335987). 31335987
TSC1 mutant renal cell carcinoma conflicting Everolimus Clinical Study - Cohort Actionable In a retrospective analysis, TSC1, TSC2, or MTOR mutation status was not associated with progression-free survival in renal cell carcinoma patients treated with Afinitor (everolimus) (PMID: 30327302). 30327302
TSC1 mutant renal cell carcinoma predicted - sensitive Temsirolimus Case Reports/Case Series Actionable In a clinical study, treatment with Afinitor (everolimus) or Torisel (temsirolimus) resulted in more partial responses (odds ratio = 0.08, p=0.030) in patients with renal cell carcinoma harboring mTOR pathway mutations, including MTOR (n=8), TSC1 (n=1), and TSC2 (n=2), than those without mutations (n=76) (PMID: 31335987). 31335987