Q616P (p.Gln616Pro) variant of DSP (Desmoplakin)
Q616P (p.Gln616Pro) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis. The record also includes published literature and structural context.
Q616P (p.Gln616Pro) variant details
- p.Gln616Pro
- rs1184921987
- ClinGen CA362679515
- ClinVar RCV000412569
- TOPMed rs1184921987
- Pathogenic
- Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
- Missense
- ClinVar: Pathogenic (Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth)
- EBI: Pathogenic (in DCWHKTA)
- UniProt: Pathogenic (in DCWHKTA)
- Structural context available
- Cited in: Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. (PMID 26604139)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)