ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1492C>A (p.Arg498=)

dbSNP: rs758217572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202157 SCV001373262 uncertain significance Combined oxidative phosphorylation defect type 27 2019-07-30 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 498 of the CARS2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CARS2 protein.
GeneDx RCV004773315 SCV005385426 uncertain significance not provided 2024-01-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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