S597P (p.Ser597Pro) variant of DSP (Desmoplakin)
S597P (p.Ser597Pro) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The record also includes published literature and structural context.
S597P (p.Ser597Pro) variant details
- p.Ser597Pro
- rs2533894106
- ClinGen CA362679120
- ClinVar RCV003048292
- Pathogenic
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- ClinVar: Pathogenic (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- EBI: Pathogenic (in DCWHKTA)
- UniProt: Pathogenic (in DCWHKTA)
- 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)