ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr)

dbSNP: rs769778018
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000810040 SCV000950226 uncertain significance Charcot-Marie-Tooth disease type 2 2023-05-16 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt AARS protein function. ClinVar contains an entry for this variant (Variation ID: 654144). This missense change has been observed in individual(s) with trichothiodystrophy (PMID: 33909043). This variant is present in population databases (rs769778018, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 699 of the AARS protein (p.Ile699Thr).
OMIM RCV001805882 SCV002051757 pathogenic Trichothiodystrophy 8, nonphotosensitive 2022-01-05 no assertion criteria provided literature only

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.