Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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Edited in this revision:
This variant was seen as a compound heterozygote (with either P376PfsX30 or P469H) in two individuals with congenital myasthenic syndromes.
Gene is associated with disease, NBLOSUM100 = 4
See unpublished research (below).
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
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.