Filamin C missense variant associated with severe right atrial disease and skeletal myopathy.
Giulio ConteFlavia PiciacchiaArgelia Medeiros-DomingoSusanna GregoPaolo RipellinoAngelo AuricchioPublished in: Journal of cardiovascular electrophysiology (2021)
Filamin C missense variant c.925G>A p.(Glu309Lys) is associated with the severe right atrial disease. Considering cosegregation with the disease (PP1 supporting), this variant should be classified as likely pathogenic.