ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2969-10A>G

gnomAD frequency: 0.00001  dbSNP: rs1576130915
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
Invitae RCV002552019 SCV003472742 uncertain significance not provided 2022-03-13 criteria provided, single submitter clinical testing This sequence change falls in intron 32 of the COL4A4 gene. It does not directly change the encoded amino acid sequence of the COL4A4 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 829841). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003396620 SCV004104407 uncertain significance COL4A4-related condition 2022-12-08 criteria provided, single submitter clinical testing The COL4A4 c.2969-10A>G variant is predicted to interfere with splicing. This variant is predicted to abolish the canonical splice acceptor site and activate a cryptic donor site 9 nucleotides upstream which could possibly result in insertion of 3 amino acids. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029780 SCV001192558 uncertain significance Autosomal dominant Alport syndrome 2019-04-25 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.