ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2385G>A (p.Trp795Ter)

dbSNP: rs1762930637
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
Invitae RCV001039989 SCV001203541 pathogenic Ehlers-Danlos syndrome, dermatosparaxis type 2019-12-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp795*) in the ADAMTS2 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with Ehlers-Danlos syndrome (PMID: 26765342). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ADAMTS2 are known to be pathogenic (PMID: 10417273).

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.