TSC1 L180P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!


TSC1 L180P

(TSC1 Leu180Pro)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • Score: 0.996 (probably damaging)
    Web search results (4 hits -- see all)
  • Supplementary Table 2 (doc 52K)
    ... TSC1 nucleotide changes on TSC1 mRNA splicing and TSC1 function, ... p.L180P. no. yes. pathogenic mutation. yes. no. c.572T>A. 7. p.L191H. no. yes. pathogenic mutation. yes. no. c. ...
  • Biochemical characterisation of TSC1 and TSC2 variants ...
    2. Derivation of 12 unclassified TSC1 variants: 3 classified as ... 1. Application of functional assays to determine whether specific TSC1 and TSC2 ...
  • OMIM: 605284
    Choi et al. (2008) showed that Tsc1 and Tsc2 had critical functions in axon formation and ... C transition in the TSC1 gene, resulting in a leu180-to-pro (L180P) substitution. ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

Log in