ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1629A>C (p.Arg543Ser)

dbSNP: rs1594195081
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791128 SCV000930402 uncertain significance Combined oxidative phosphorylation defect type 27 2019-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000791128 SCV002169576 uncertain significance Combined oxidative phosphorylation defect type 27 2021-04-01 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 638459). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 543 of the CARS2 protein (p.Arg543Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine.

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.