Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001036882 | SCV001200269 | uncertain significance | Arrhythmogenic right ventricular dysplasia 9 | 2019-12-13 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PKP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 588 of the PKP2 protein (p.His588Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. |
| Ambry Genetics | RCV004649402 | SCV005154798 | uncertain significance | Cardiovascular phenotype | 2024-06-09 | criteria provided, single submitter | clinical testing | The p.H588R variant (also known as c.1763A>G), located in coding exon 8 of the PKP2 gene, results from an A to G substitution at nucleotide position 1763. The histidine at codon 588 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |