E90* (p.Glu90Ter) variant of DSC2 (Desmocollin-2)

Name: DSC2 E90* (p.Glu90Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-18
License: https://catvariant.com/terms-of-use

E90* (p.Glu90Ter) in DSC2 (Desmocollin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

E90* (p.Glu90Ter) variant details

p.Glu90Ter
rs1987624232
ClinGen CA402114754
ClinVar RCV001038836
ClinVar RCV004017778
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)