Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001066775 | SCV001231795 | pathogenic | Arrhythmogenic right ventricular dysplasia 9 | 2022-06-13 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 860471). For these reasons, this variant has been classified as Pathogenic. 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.Glu335*) 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). |
| Ambry Genetics | RCV002402459 | SCV002706384 | pathogenic | Cardiovascular phenotype | 2020-07-29 | criteria provided, single submitter | clinical testing | The p.E335* variant (also known as c.1003G>T), located in coding exon 3 of the PKP2 gene, results from a G to T substitution at nucleotide position 1003. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. 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. |