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Gene TSC1
Variant H68R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 H68R does not lie within any known functional domains of the Tsc1 protein (UniProt.org). H68R results in reduced protein stability in culture (PMID: 18397877), but has not been fully biochemically characterized and therefore, its effect on Tsc1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 H68R

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Transcript NM_000368.5
gDNA chr9:g.132927208T>C
cDNA c.203A>G
Protein p.H68R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406623.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406622.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162426 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_006717271 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015099 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015098 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_005272211 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015100 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_011518979 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015097 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_000368 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015099.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015100.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406617.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162427.2 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406620.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162427 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406612.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015101.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015101 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406613.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406625.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406611.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406619.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406615.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015096 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406614.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406621.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406624.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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
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 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 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 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 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