Y28* (p.Tyr28Ter) variant of DSP (Desmoplakin)

Name: DSP Y28* (p.Tyr28Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-09
License: https://catvariant.com/terms-of-use

Y28* (p.Tyr28Ter) in DSP (Desmoplakin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Y28* (p.Tyr28Ter) variant details

p.Tyr28Ter
rs2533800954
ClinGen CA362675731
ClinVar RCV003800426
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)