ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.1873C>T (p.Arg625Cys)

gnomAD frequency: 0.00002  dbSNP: rs756662327
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
3billion RCV002250846 SCV002520968 uncertain significance Combined oxidative phosphorylation defect type 8 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.92; 3Cnet: 0.98). A different missense change at the same codon (p.Arg625His) has been reported to be associated with AARS2 related disorder (ClinVar ID: VCV001207958). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.
PreventionGenetics, part of Exact Sciences RCV004738564 SCV005347985 uncertain significance AARS2-related disorder 2024-07-10 no assertion criteria provided clinical testing The AARS2 c.1873C>T variant is predicted to result in the amino acid substitution p.Arg625Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.