ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1630G>A (p.Gly544Arg) (rs1131691834)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493871 SCV000582963 likely pathogenic not provided 2015-11-05 criteria provided, single submitter clinical testing The G544R variant in the COL4A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G544R variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G544R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species compromising a Glycine residue located in the triple-helical region of the COL4A1 gene. Glycine residues play an important role for the stabilization of collagenous triple helical domain (Plaiser and Ronco, 2011). In silico analysis predicts this variant is probably damaging to the protein structure/function. The G544R variant is a strong candidate for a pathogenic variant

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.