ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.646G>A (p.Gly216Arg)

gnomAD frequency: 0.00001  dbSNP: rs768491774
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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 RCV000707056 SCV000836136 uncertain significance Combined oxidative phosphorylation defect type 27 2018-06-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs768491774, ExAC 0.003%). 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 disease. This sequence change replaces glycine with arginine at codon 216 of the CARS2 protein (p.Gly216Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine.

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