Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001062321 | SCV001227115 | pathogenic | Arrhythmogenic right ventricular dysplasia 9 | 2023-08-21 | 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: 856786). 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.Gln49Serfs*56) 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 |
RCV001655673 | SCV001871087 | likely pathogenic | not provided | 2021-06-21 | 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 (ClinVar Variant ID#856786; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533) |
| Ai |
RCV001655673 | SCV002502726 | likely pathogenic | not provided | 2021-08-18 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002393306 | SCV002701428 | pathogenic | Cardiovascular phenotype | 2020-11-16 | criteria provided, single submitter | clinical testing | The c.144_165del22 pathogenic mutation, located in coding exon 1 of the PKP2 gene, results from a deletion of 22 nucleotides at nucleotide positions 144 to 165, causing a translational frameshift with a predicted alternate stop codon (p.Q49Sfs*56). This variant has been reported in an individual with dilated cardiomyopathy; however clinical details were limited and additional variants were reported (Headrick AT et al. Mol Genet Genomic Med, 2019 06;7:e593). 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. |