Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000766578 | SCV000236249 | uncertain significance | not provided | 2023-01-30 | criteria provided, single submitter | clinical testing | Has been reported in an individual with arrhythmogenic cardiomyopathy (Dries et al., 2021); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34120153) |
Invitae | RCV000550372 | SCV000638881 | uncertain significance | Arrhythmogenic right ventricular dysplasia 9 | 2023-06-04 | criteria provided, single submitter | clinical testing | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 45060). This missense change has been observed in individual(s) with clinical features of PKP2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 709 of the PKP2 protein (p.Leu709Phe). 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. |
Laboratory for Molecular Medicine, |
RCV000038200 | SCV000061867 | uncertain significance | not specified | 2009-06-08 | no assertion criteria provided | clinical testing |