ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1951C>T (p.Arg651Ter) (rs751288871)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183760 SCV000236241 pathogenic not provided 2015-01-08 criteria provided, single submitter clinical testing p.Arg651Stop (CGA>TGA): c.1951 C>T in exon 9 of the PKP2 gene (NM_004572.3). The Arg651Stop mutation in the PKP2 gene has been reported previously in association with ARVC (Gerull B et al., 2004; Fressart V et al., 2010; Zhang M et al., 2012). The Arg651Stop mutation has been reported in several individuals diagnosed with ARVC, and considering all publications, this mutation was absent from 1,100 control alleles. The Arg651Stop mutation is predicted to cause a loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, other nonsense mutations in the PKP2 gene have also been reported in association with ARVC. The variant is found in ARVC panel(s).
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000609212 SCV000733161 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 9 no assertion criteria provided clinical testing

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