ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.4004-2A>T

dbSNP: rs80356555
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002513342 SCV003525730 pathogenic not provided 2022-05-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 7 of the VCAN gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in the loss of 13 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. Disruption of this splice site has been observed in individuals with Wagner syndrome (PMID: 16043844, 21738396). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 41877). Studies have shown that disruption of this splice site results in the activation of a cryptic splice site in exon 8 (PMID: 16043844, 21738396). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000034807 SCV000058369 pathogenic Wagner syndrome 2011-01-01 no assertion criteria provided literature only
GeneReviews RCV000034807 SCV000258540 not provided Wagner syndrome no assertion provided literature only

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.