ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.929G>A (p.Arg310Gln)

gnomAD frequency: 0.00001  dbSNP: rs1135401748
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
Ambry Genetics RCV004023320 SCV002755179 uncertain significance not specified 2019-09-28 criteria provided, single submitter clinical testing The p.R310Q variant (also known as c.929G>A), located in coding exon 8 of the GARS gene, results from a G to A substitution at nucleotide position 929. The arginine at codon 310 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Antonellis Laboratory at Michigan, University of Michigan RCV000496771 SCV000579487 pathogenic GARS-associated growth retardation and developmental delay no assertion criteria provided clinical testing This variant is associated with a recessive, multi-system disorder described in PMID:28675565.

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.