ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1693T>G (p.Ter565Gly)

dbSNP: rs1594194614
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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 RCV001348745 SCV001543056 uncertain significance Combined oxidative phosphorylation defect type 27 2020-07-01 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the CARS2 mRNA. It is expected to extend the length of the CARS2 protein by 37 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CARS2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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