ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4628del (p.Gly1543fs)

dbSNP: rs1839084095
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002240218 SCV001215596 pathogenic Ehlers-Danlos syndrome, classic type, 1 2019-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1543Valfs*76) in the COL5A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL5A1-related conditions. Loss-of-function variants in COL5A1 are known to be pathogenic (PMID: 23587214). For these reasons, this variant has been classified as Pathogenic.

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.