ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.845A>G (p.His282Arg)

dbSNP: rs2139765647
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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 RCV001888470 SCV002142612 uncertain significance Combined oxidative phosphorylation defect type 27 2021-03-08 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, 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). This sequence change replaces histidine with arginine at codon 282 of the CARS2 protein (p.His282Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.

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