Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001961737 | SCV002254519 | uncertain significance | Combined oxidative phosphorylation defect type 27 | 2021-11-25 | criteria provided, single submitter | clinical testing | This sequence change disrupts the translational stop signal of the CARS2 mRNA. It is expected to extend the length of the CARS2 protein by 7 additional amino acid residues. 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. This variant has not been reported in the literature in individuals affected with CARS2-related conditions. This variant is not present in population databases (gnomAD no frequency). |