ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3751+1G>A

gnomAD frequency: 0.00001  dbSNP: rs781566652
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670997 SCV000795931 likely pathogenic Autosomal recessive Alport syndrome 2017-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001379464 SCV001577267 likely pathogenic not provided 2020-09-30 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of COL4A3-related conditions (invitae). ClinVar contains an entry for this variant (Variation ID: 555218). This variant is present in population databases (rs781566652, ExAC 0.01%). This sequence change affects a donor splice site in intron 42 of the COL4A3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700).
Natera, Inc. RCV001830450 SCV002076422 likely pathogenic Alport syndrome 2020-09-14 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.