Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000223156 | SCV000272313 | uncertain significance | not specified | 2016-03-23 | criteria provided, single submitter | clinical testing | The p.Asn74Lys variant in PKP2 has not been previously reported in individuals w ith cardiomyopathy. Data from large population studies is insufficient to asses s the frequency of this variant. Computational prediction tools and conservatio n analyses suggest that the p.Asn74Lys variant may not impact the protein, thoug h this information is not predictive enough to rule out Pathogenicity. This vari ant is located in the 5' splice region. Computational tools do not suggest an im pact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Asn74Lys variant is uncertain. |
| Labcorp Genetics |
RCV001857750 | SCV002269483 | uncertain significance | Arrhythmogenic right ventricular dysplasia 9 | 2023-02-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.01%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 229149). This variant has not been reported in the literature in individuals affected with PKP2-related conditions. This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 74 of the PKP2 protein (p.Asn74Lys). |