||right ventricular dysfunction possible; see discussion
||common in clinvar
The variant rs193922674 allele is reported as pathogenic for ARVD type 9 in ClinVar by one source, acting in a dominant manner.
[PMID 29997392] Without naming the company that produced the data, this paper cites one example of a false positive finding for this SNP in direct-to-consumer genotyping data.
See also: OMIM 601861.0003
[PMID 18382] Ditazole and platelets. II. Effect of ditazole on in vivo platelet aggregation and bleeding time in rats.
[PMID 16549640] Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.
[PMID 17010805] Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
[PMID 19279339] A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
[PMID 19358943] Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.
[PMID 19880068] Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.