MYOT S60C - GET-Evidence

Curation:
Currentness:

MYOT S60C

(MYOT Ser60Cys)


Short summary

Reported by ClinVar to cause Myofibrillar myopathy or myotilinopathy (https://www.ncbi.nlm.nih.gov/clinvar/variation/5836/). In ClinVar, it is reported as “pathogenic” by submissions from Emory Genetics Laboratory, Wellcome Trust Centre for Mitochondrial Research, and OMIM.

These resources reference a couple of papers. Selcen and Engel 2004 (https://www.ncbi.nlm.nih.gov/pubmed/15111675) report finding this variant in 3 of 57 patients tested for myofibrillar myopathy, and Olive et al 2012 (https://www.ncbi.nlm.nih.gov/pubmed/21676617) found this variant in 7 of 35 families tested for myofibrillar myopathy.

Variant evidence
Computational -
Functional -
Case/Control 5
Familial 5
 
Clinical importance
Severity 4
Treatability 1
Penetrance 5
 

Impact

High clinical importance, pathogenic

(The "high clinical importance, " qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the MYOT gene
    Myofibrillar Myopathy
    Limb-Girdle Muscular Dystrophies, Autosomal Dominant
    LGMD1A
    Myotilinopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYOT

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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