Article
Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
Heart rhythm - 1 Aug 2023
O'Neill Matthew J, Chen Suet Nee, Rumping Lynne, Johnson Renee, van Slegtenhorst Marjon, Glazer Andrew M, Yang Tao, Solus Joseph F, Laudeman Julie, Mitchell Devyn W, Vanags Loren R, Kroncke Brett M, Anderson Katherine, Gao Shanshan, Verdonschot Job A J, Brunner Han, Hellebrekers Debby, Taylor Matthew R G, Roden Dan M, Wessels Marja W, Lekanne Dit Deprez Ronald H, Fatkin Diane, Mestroni Luisa, Shoemaker M Benjamin
Abstract excerpt
BACKGROUND: Truncating variants in filamin C (FLNC) can cause arrhythmogenic cardiomyopathy (ACM) through haploinsufficiency. Noncanonical splice-altering variants may contribute to this phenotype. OBJECTIVE: The purpose of this study was to investigate the clinical and functional consequences of a recurrent FLNC intronic variant of uncertain significance (VUS), c.970-4A>G. METHODS: Clinical data in 9 variant...
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