ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.179G>A (p.Gly60Glu)

dbSNP: rs868325979
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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 RCV001313150 SCV001503629 uncertain significance Combined oxidative phosphorylation defect type 27 2020-09-25 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 60 of the CARS2 protein (p.Gly60Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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