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Gene Symbol TSC1
Synonyms LAM | TSC
Gene Description TSC1, TSC complex subunit 1, is a tumor suppressor (PMID: 30562755) that forms a complex with Tsc2 and inhibits mTOR pathway signaling, thus regulating cell growth and metabolism (PMID: 27226234). Germline TSC1 inactivating mutations cause tuberous sclerosis complex and somatic TSC1 mutations have been identified in various cancers, including renal cell carcinoma, mucosal melanoma, and breast cancer (PMID: 27226234, PMID: 30327302, PMID: 29185092, PMID: 28027327).
ACMG Incidental List v3.0:
Yes, Tuberous sclerosis complex (PMID: 34012068)

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Molecular Profile Protein Effect Treatment Approaches
TSC1 A1070V unknown
TSC1 A1072V unknown
TSC1 A173V unknown
TSC1 A186fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 A529S unknown
TSC1 A529V unknown
TSC1 A567V no effect - predicted
TSC1 A944T unknown
TSC1 A944V unknown
TSC1 C165Y unknown
TSC1 C197F unknown
TSC1 D239G unknown
TSC1 D291Lfs*22 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 D47G unknown
TSC1 D47N unknown
TSC1 del loss of function mTOR Inhibitor mTORC1 Inhibitor
PIK3CA act mut TSC1 del
TSC1 E636fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 E78* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 E801* unknown mTOR Inhibitor mTORC1 Inhibitor
TSC1 E876K unknown
TSC1 E931D unknown
TSC1 F158C unknown
TSC1 F188S unknown
TSC1 F216* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 F216A unknown
TSC1 F216Dfs*3 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 G1035S no effect
TSC1 G305A unknown
TSC1 G305R unknown
TSC1 G305W unknown
TSC1 G382D unknown
TSC1 H105R unknown
TSC1 H181Y unknown
TSC1 H206D unknown
TSC1 H68R unknown
TSC1 inact mut loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 K477* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 K477N unknown
TSC1 K82T no effect
TSC1 L116fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 L117P loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 L129H unknown
TSC1 L180P loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 L191H loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 L203fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 L557Cfs*72 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 L72R unknown
TSC1 L87* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 L896F unknown
TSC1 L896V unknown
TSC1 LOH unknown
TSC1 R500* TSC1 LOH
TSC1 S331Efs*10 TSC1 LOH
PIK3CA amp TSC1 LOH
PIK3CA E542K TSC1 LOH
TSC1 loss loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 M18Cfs*8 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 M18fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 M194Afs*13 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 M224R loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 M271T unknown
TSC1 M271T TSC2 L604P
TSC1 M322T unknown
TSC1 M322V unknown
TSC1 mutant unknown
TSC1 N198_F199delinsI loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 N762S no effect - predicted
TSC1 N891fs unknown
TSC1 P1143L unknown
TSC1 P141S unknown
TSC1 P590S unknown
TSC1 P602Sfs*4 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 Q413* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 Q413Rfs*27 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 Q516* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 Q55Sfs*7 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 Q654E unknown
TSC1 Q830* unknown
FGFR3 S249C TSC1 Q830*
TSC1 Q865* unknown
TSC1 R1027Q unknown
TSC1 R1062W unknown
TSC1 R1097C unknown
TSC1 R1097H no effect
TSC1 R190P loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 R204C loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 R204H unknown
TSC1 R204L unknown
TSC1 R228Q unknown
TSC1 R22W loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 R245* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 R246K unknown
TSC1 R284H unknown
TSC1 R420Gfs*20 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 R424fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 R500* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 R509* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 R509Q no effect
TSC1 R692* loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 R706C unknown
TSC1 R706H unknown
TSC1 R786Q unknown
TSC1 R98* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 S1043del unknown
TSC1 S1043dup unknown
TSC1 S1043fs unknown
TSC1 S1043N unknown
TSC1 S16C unknown
TSC1 S282* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 S331Efs*10 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 S35C unknown
TSC1 S35Q unknown
TSC1 S361Y unknown
TSC1 S410* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 S561fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
FGFR3 S249C TSC1 S561fs
FGFR3 S249C FGFR3 E587Q FGFR3 amp PIK3CA E726Q TSC1 S561fs
FGFR3 S249C FGFR3 E587Q FGFR3 amp PIK3CA E726K TSC1 S561fs
TSC1 S575F unknown
TSC1 S661N unknown
TSC1 T417I no effect
TSC1 V128del loss of function mTOR Inhibitor mTORC1 Inhibitor
TSC1 V220F unknown
TSC1 V46Wfs*16 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 V497L unknown
TSC1 V620A unknown
TSC1 V858L unknown
TSC1 W164* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 W347L unknown
TSC1 wild-type no effect
TSC1 Y185* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 Y312* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 Y948F unknown