ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1570G>A (p.Glu524Lys)

dbSNP: rs1214379430
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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 RCV001876854 SCV002132024 uncertain significance Combined oxidative phosphorylation defect type 27 2022-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CARS2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 524 of the CARS2 protein (p.Glu524Lys). ClinVar contains an entry for this variant (Variation ID: 1369758). 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.

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