TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex

Laura S. Farach, William T. Gibson, Steven P. Sparagana, Mark Nellist, Connie T R M Stumpel, Marja Hietala, Elliott Friedman, Deborah A. Pearson, Susan P. Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northrup

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, abnormalities of the skin, and neurologic problems including seizures, intellectual disability, and autism. TSC is caused by pathogenic variants in either TSC1 or TSC2. In general, TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic variants. Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC. This finding has significant implications for counseling patients regarding prognosis. More patient data are required before changing the surveillance recommendations for patients with the reported variant. However, consideration should be given to tailoring surveillance recommendations for all pathogenic TSC1 and TSC2 variants with documented milder clinical sequelae.

Original languageEnglish (US)
Pages (from-to)771-775
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number3
StatePublished - Mar 1 2017


  • TSC2
  • genetic counseling
  • genotype–phenotype association
  • rhabdomyoma
  • tuberous sclerosis complex

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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