Key result
ACTA1 variant analysis classifies ~64% as pathogenic or likely pathogenic in congenital myopathy.
Why the study?
Congenital myopathies involve numerous mutations in the skeletal muscle α-actin gene, but the effects of these mutations on actin structure and function require further analysis.
May refine ACTA1 variant classification in congenital myopathy; leaves open clinical adoption pending functional and prospective validation.
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Mohajer et al. (2016) conducted a review in Congenital myopathy (ACTA1 disease) (n=607). ACTA1 variants was evaluated on Pathogenicity classification according to ACMG guidelines. Analysis of 607 ACTA1 variants identified 391 pathogenic/likely pathogenic variants, 58 variants of uncertain significance, and 147 benign/likely benign variants associated with congenital myopathy.
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