DOK7 S45L - GET-Evidence

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

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Curation:
Currentness:

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DOK7 S45L

(DOK7 Ser45Leu)


You are viewing an old version of this page that was saved on March 6, 2010 at 10:28pm by Madeleine Ball.

Edited in this revision:

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See unpublished research (below).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 -
 

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

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)

Publications
 

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 with congenital myasthenic syndromes.

Genomes
 

snp-18

 

Other external references
 

    GeneTests
  • GeneTests records for the DOK7 gene
    Congenital Myasthenic Syndromes
    DOK7-Related Congenital Myasthenic Syndrome
    DOK7-Related Fetal Akinesia Deformation Sequence
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DOK7
    PolyPhen-2
  • 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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