ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.48G>A (p.Gln16=)

dbSNP: rs2139948147
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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 RCV001367413 SCV001563761 uncertain significance Combined oxidative phosphorylation defect type 27 2020-03-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CARS2-related conditions. 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, but this prediction has not been confirmed by published transcriptional studies. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change affects codon 16 of the CARS2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CARS2 protein.

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