ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.3G>T (p.Met1Ile)

dbSNP: rs2139948769
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001940245 SCV002191030 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. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1417510). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the CARS2 mRNA. The next in-frame methionine is located at codon 114.

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.