ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.888C>A (p.Cys296Ter)

dbSNP: rs780225759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968772 SCV002256948 uncertain significance Combined oxidative phosphorylation defect type 27 2020-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys296*) in the CARS2 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 CARS2 cause disease. 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. This variant has not been reported in the literature in individuals with CARS2-related conditions. This variant is not present in population databases (ExAC no frequency).

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