ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.766G>A (p.Glu256Lys)

gnomAD frequency: 0.00001  dbSNP: rs756239121
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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 RCV000817126 SCV000957671 uncertain significance Combined oxidative phosphorylation defect type 27 2022-09-01 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 660016). 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 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 256 of the CARS2 protein (p.Glu256Lys).

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