ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1692_1693insGG (p.Ter565GlyextTer?)

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Total submissions: 1
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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).

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