ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.119G>C (p.Arg40Pro)

gnomAD frequency: 0.00001  dbSNP: rs916018424
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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 RCV002009413 SCV002290005 uncertain significance Combined oxidative phosphorylation defect type 27 2021-07-22 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 tolerated. This variant has not been reported in the literature in individuals affected with CARS2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces arginine with proline at codon 40 of the CARS2 protein (p.Arg40Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline.

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