Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000622111 | SCV000737649 | pathogenic | Cardiovascular phenotype | 2019-05-08 | criteria provided, single submitter | clinical testing | The c.1952_1955dupGAAG pathogenic mutation, located in coding exon 9 of the PKP2 gene, results from a duplication of GAAG at nucleotide positions 1952 to 1955, causing a translational frameshift with a predicted alternate stop codon (p.S652Rfs*92). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Labcorp Genetics |
RCV000640004 | SCV000761591 | pathogenic | Arrhythmogenic right ventricular dysplasia 9 | 2022-02-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 45051). This variant has not been reported in the literature in individuals affected with PKP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser652Argfs*92) in the PKP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). |
| Gene |
RCV001548469 | SCV001768385 | pathogenic | not provided | 2020-11-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Reported in ClinVar as pathogenic/likely pathogenic (ClinVar Variant ID# 45051; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 32372669) |
| Greenwood Genetic Center Diagnostic Laboratories, |
RCV000640004 | SCV005043872 | likely pathogenic | Arrhythmogenic right ventricular dysplasia 9 | 2024-01-08 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
| Laboratory for Molecular Medicine, |
RCV000038191 | SCV000061858 | likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy | 2008-12-09 | no assertion criteria provided | clinical testing |