ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1377G>C (p.Gln459His)

gnomAD frequency: 0.00001  dbSNP: rs1047045222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332523 SCV001524873 uncertain significance Combined oxidative phosphorylation defect type 27 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332523 SCV002135190 uncertain significance Combined oxidative phosphorylation defect type 27 2022-07-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CARS2-related conditions. 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1030848). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 459 of the CARS2 protein (p.Gln459His).

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