DOK7 S45L - GET-Evidence

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

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(DOK7 Ser45Leu)

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Short summary

This variant was seen as a compound heterozygote (with either P376PfsX30 or P469H) in two individuals with congenital myasthenic syndromes.

Variant evidence
Computational 2

Gene is associated with disease, NBLOSUM100 = 4

See unpublished research (below).

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


Total cases/controls case+ case– control+ control– p-value odds ratio
Congenital Myasthenic Syndromes
2 198 0 50 1.0000


Allele frequency

  • T @ chr4:3475166: 0.6% (58/10384) in EVS
  • T @ chr4:3444963: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (58/10384)


Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain. 2007 Jun;130(Pt 6):1497-506. Epub 2007 Apr 17. PubMed PMID: 17439981.

This variant was seen as a compound heterozygote (with either P376PfsX30 or P469H) in two individuals out of a screen of 200 “so far unsolved” cases of congenital myasthenic syndromes. The authors mention screening 100 control DNAs (chromosomes?); we presume the mutation was not seen once in these.

Cases/controls case+ case– control+ control– p-value odds ratio
Congenital Myasthenic Syndromes
2 198 - 50 1.0000





Other external references

  • GeneTests records for the DOK7 gene
    Congenital Myasthenic Syndromes
    DOK7-Related Congenital Myasthenic Syndrome
    DOK7-Related Fetal Akinesia Deformation Sequence
  • Score: 0.302 (possibly damaging)

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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