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.

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Curation:
Currentness:

TSC1 L180P

(TSC1 Leu180Pro)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • 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. ...
    www.nature.com/ejhg/journal/v17/n3/extref/ejhg2008170x2.doc
  • 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 ...
    dtic.mil/...?AD=ADA509747&Location=U2&doc=GetTRDoc.pdf
  • 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. ...
    www.genome.jp/dbget-bin/www_bget?omim+605284

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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