ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1163G>A (p.Arg388Gln)

gnomAD frequency: 0.00002  dbSNP: rs780660981
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
GeneDx RCV001586424 SCV001812889 uncertain significance not provided 2021-02-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002324155 SCV002631386 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-11-09 criteria provided, single submitter clinical testing The p.R388Q variant (also known as c.1163G>A), located in coding exon 2 of the SLC2A10 gene, results from a G to A substitution at nucleotide position 1163. The arginine at codon 388 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and glutamine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.