TSC1 H732Y - GET-Evidence

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TSC1 H732Y

(TSC1 His732Tyr)

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

  • A @ chr9:135779052: 0.3% (30/10758) in EVS
  • Frequency shown in summary reports: 0.3% (30/10758)


Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blümcke I. Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. Ann Neurol. 2002 Jul;52(1):29-37. PubMed PMID: 12112044.

this variant was found in 14 out 40 people affected with Focal Cortical Dysplasias (FCD) and 2 out of 200 controls. It was also found in 2 patients affected with TSC. The symptoms of the TCS patients included facial angiofibromas, hypomelanotic macules, retinal hamartomas, or cardiac rhabdomyoma, while the main symptome of patients affected with FCD was epilepsy.

Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A. Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro. J Neuropathol Exp Neurol. 2009 Oct;68(10):1136-46. doi: 10.1097/NEN.0b013e3181b9a699. PubMed PMID: 19918125.



Other external references

  • Score: 0.998 (probably damaging)
    Web search results (23 hits -- see all)
  • Molecular genetic and phenotypic analysis reveals differences ...
    ... least in part, explains the relative paucity of TSC1 mutations in sporadic TSC. ... not been reported at the TSC1 locus, and the TSC1 gene was only identified after ...
  • 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 ...
  • tuberin – Dictionary definition of tuberin | Encyclopedia.com ...
    Definition of tuberin – Our online dictionary has tuberin information from A Dictionary ... Week January 20, 2010 700+ words ...TSC1 or TSC2 genes that encode hatmartin and ...
  • OMIM: 605284
    GENE STRUCTURE The TSC1 gene consists of 23 exons, of which the last 21 contain coding ... the Drosophila Tsc1 gene. Cells mutant for Tsc1 were dramatically ...
  • Pubget: 19204717[related]
    Methods: Sequence variants of the TSC1 allele found in FCDIIb patients were ... TSC1 present in FCDIIb (H732Y) also resulted in significantly compromised TSC1/2 ...

Other in silico analyses

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 6

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Gene search

"GENE" or "GENE A123C":

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