T638I (p.Thr638Ile) variant of DSP (Desmoplakin)
T638I (p.Thr638Ile) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The record also includes published literature and structural context.
T638I (p.Thr638Ile) variant details
- p.Thr638Ile
- rs2533896147
- ClinGen CA362679986
- ClinVar RCV003785299
- Likely pathogenic
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- ClinVar: Likely pathogenic (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- EBI: Likely pathogenic
- UniProt: Likely 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)