ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1592G>A (p.Arg531Gln)

gnomAD frequency: 0.00009  dbSNP: rs371876889
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001201867 SCV001372958 uncertain significance Combined oxidative phosphorylation defect type 27 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 531 of the CARS2 protein (p.Arg531Gln). This variant is present in population databases (rs371876889, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 933621). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004033513 SCV004917946 uncertain significance Inborn genetic diseases 2021-03-02 criteria provided, single submitter clinical testing The c.1592G>A (p.R531Q) alteration is located in exon 14 (coding exon 14) of the CARS2 gene. This alteration results from a G to A substitution at nucleotide position 1592, causing the arginine (R) at amino acid position 531 to be replaced by a glutamine (Q). The p.R531Q alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.