Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000732852 | SCV000620559 | uncertain significance | not provided | 2018-05-09 | criteria provided, single submitter | clinical testing | The R193X variant in the PCK2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R193X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R193X as a variant of uncertain significance. |
Genomic Research Center, |
RCV000625920 | SCV000746506 | pathogenic | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 2017-12-03 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732852 | SCV000860847 | uncertain significance | not provided | 2018-04-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000732852 | SCV004425588 | uncertain significance | not provided | 2022-12-28 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 451808). This variant has not been reported in the literature in individuals affected with PCK2-related conditions. This variant is present in population databases (rs753706965, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg193*) in the PCK2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PCK2 cause disease. |