ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1318-10T>A

gnomAD frequency: 0.00001  dbSNP: rs773908976
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522114 SCV000618825 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001226270 SCV001398577 uncertain significance Combined oxidative phosphorylation defect type 27 2020-05-20 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 disrupt the consensus 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. ClinVar contains an entry for this variant (Variation ID: 450268). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 12 of the CARS2 gene. It does not directly change the encoded amino acid sequence of the CARS2 protein.

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