ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr)

gnomAD frequency: 0.00008  dbSNP: rs141486562
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423363 SCV000529121 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing The A469T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. The A469T variant is observed in 6/66724 (0.0089%) alleles from individuals of European (non-Finnish)background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome VariantServer). The A469T variant is a non-conservative amino acid substitution, which is likely to impact secondaryprotein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is conserved across species. In silico analysis predicts this variant is probably damaging to the proteinstructure/function. In summary, based on the currently available information, it is unclear whether this variant is apathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000795287 SCV000934739 likely benign Charcot-Marie-Tooth disease type 2 2024-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461164 SCV002755272 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing Unlikely to be causative of AARS-related Charcot-Marie-Tooth disease, type 2 (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000423363 SCV005411350 uncertain significance not provided 2024-06-25 criteria provided, single submitter clinical testing

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.