ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.958C>G (p.Arg320Gly)

dbSNP: rs138490305
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653860 SCV000775750 uncertain significance Charcot-Marie-Tooth disease type 2 2023-07-25 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AARS protein function. 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. ClinVar contains an entry for this variant (Variation ID: 543183). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 320 of the AARS protein (p.Arg320Gly). This variant is present in population databases (rs138490305, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with AARS-related conditions.
CeGaT Center for Human Genetics Tuebingen RCV003411552 SCV004140068 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing AARS1: PM2, PM5, PP3
GeneDx RCV003411552 SCV005332814 uncertain significance not provided 2024-03-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25817015)

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.