ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.571+2T>C

dbSNP: rs749363417
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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 RCV001312706 SCV001503170 uncertain significance Combined oxidative phosphorylation defect type 27 2020-02-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the CARS2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CARS2 cause disease. 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. This variant is not present in population databases (ExAC no frequency).

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