ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter) (rs2071189852)

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
Invitae RCV001390141 SCV001591776 pathogenic not provided 2020-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu539*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL4A3-related conditions. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). For these reasons, this variant has been classified as Pathogenic.
Myriad Women's Health, Inc. RCV001264368 SCV001442472 likely pathogenic Alport syndrome, autosomal recessive 2019-06-15 no assertion criteria provided clinical testing

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.