TSC1 K585R - GET-Evidence

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

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TSC1 K585R

(TSC1 Lys585Arg)

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

    Web search results (3 hits -- see all)
  • Search unique variants - Tuberous sclerosis database - Leiden ...
    The variants below are all in the TSC1 database, matching your query. ... did not affect TSC1 function; TSC1 levels and S6K T389 phosphorylation as wild-type; ...
  • Compositions and methods based upon the tuberous sclerosis-1 ...
    The present invention is directed to a tumor suppressor protein which has been designated hamartin and to the gene, TSC1, which encodes this protein. Mutations in ...
  • OMIM: 605284
    Overexpression of Tsc1/Tsc2 suppressed axon formation, whereas lack of Tsc1 or Tsc2 ... TSC1 gene was an A-to-G transition of nucleotide 1981, leading to a lys585-to-arg (K585R) ...

Other in silico analyses

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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