ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.73G>A (p.Gly25Arg)

gnomAD frequency: 0.00001  dbSNP: rs1390223276
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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 RCV001308417 SCV001497866 uncertain significance Combined oxidative phosphorylation defect type 27 2020-05-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 25 of the CARS2 protein (p.Gly25Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. 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. This variant has not been reported in the literature in individuals with CARS2-related conditions. 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.

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