ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter)

dbSNP: rs2059821994
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 RCV001219538 SCV001391482 pathogenic not provided 2019-05-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 11961012, 14582039, 19129241, 21196518, 24052634, 24522496, 24854265, 25307543, 26809805, 27281700). This variant has not been reported in the literature in individuals with COL4A4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln468*) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV001264178 SCV001442280 likely pathogenic Autosomal recessive Alport syndrome 2019-11-20 criteria provided, single submitter 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.