He was a heterozygous carrier of 3 VUS: c.956A>G in COL6A1, c.155T>G in SGCA, and c.17342G>A in SYNE1. Variable phenotypic features in LGMDD5 have been associated with mutations in different locations of genes encoding collagen VI [53], including COL6A1, one of the introduced biomarkers of DCM in a human induced pluripotent stem cell-derived cardiomyocyte model [29]. The gene discussed is COL6A1; the disease is familial dilated cardiomyopathy.