ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1793G>A (p.Arg598His)

gnomAD frequency: 0.00007  dbSNP: rs529317104
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 RCV000521734 SCV000617992 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing 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
Ambry Genetics RCV002404341 SCV002713022 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-05-13 criteria provided, single submitter clinical testing The p.R598H variant (also known as c.1793G>A), located in coding exon 27 of the COL5A2 gene, results from a G to A substitution at nucleotide position 1793. The arginine at codon 598 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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.