ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5243A>G (p.Gln1748Arg)

dbSNP: rs2132925725
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 RCV002274578 SCV002559384 uncertain significance not provided 2024-10-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); This variant is associated with the following publications: (PMID: 22696272)
Ambry Genetics RCV002337424 SCV002645380 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-07-02 criteria provided, single submitter clinical testing The p.Q1748R variant (also known as c.5243A>G), located in coding exon 65 of the COL5A1 gene, results from an A to G substitution at nucleotide position 5243. The glutamine at codon 1748 is replaced by arginine, 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 tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant 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.