Computational Structural Modeling of the TTN p.(Arg3936Ter) Variant in a Panamanian Patient with Dilated Cardiomyopathy
Established genomic and population-level evidence support a Likely Pathogenic, loss-of-function classification for the TTN p.Arg3936Ter variant, which introduces a premature termination codon predicted to generate a truncated titin protein of 3,935 amino acids and is predicted to escape nonsense-mediated decay.
Lydier De Gracia, O. Espinosa, L. Sotillo et al.
· Gene Clin Genom · 0 citations