ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.(?_1689)_(1806_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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.

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