This variant lies on Chromosome 14 and affects the gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; MYH7-related skeletal myopathy