Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151651 | SCV000199906 | likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy | 2014-03-24 | criteria provided, single submitter | clinical testing | The (?_1689)_(1806_?)del variant in PKP2 has been reported in 1 Dutch individual with ARVC (Cox 2011). This variant is a deletion encompassing exon 8 and is pre dicted to result in a truncated or absent protein. Other truncating variants in PKP2 are well-reported in individuals with ARVC (ARVD/C Genetic Variant Database , http://arvcdatabase.info; Human Gene Mutation Database). In summary, this vari ant is likely pathogenic, though additional studies are required to fully establ ish its clinical significance. |