ClinVar Miner

Submissions for variant NC_000005.10:g.(?_179272901)_(179273074_?)del

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 RCV001032486 SCV001195793 pathogenic Ehlers-Danlos syndrome, dermatosparaxis type 2022-09-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the ADAMTS2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ADAMTS2 are known to be pathogenic (PMID: 10417273). A similar copy number variant has been observed in individual(s) with Ehlers–Danlos type VIIC (PMID: 15373769). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that a similar copy number variant affects ADAMTS2 function (PMID: 15373769). 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.