ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.4004-1G>A

dbSNP: rs80356554
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000020591 SCV002521775 pathogenic Wagner syndrome 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000021405). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service RCV004556050 SCV005045285 pathogenic Stickler syndrome 2024-01-18 criteria provided, single submitter clinical testing PVS1_Strong,PS1_Supporting,PS4_Supporting,PM2,PP1_Strong
GeneReviews RCV000020591 SCV000041078 not provided Wagner syndrome no assertion provided literature only
OMIM RCV000020591 SCV000058368 pathogenic Wagner syndrome 2006-08-01 no assertion criteria 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.