ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) (rs1064794627)

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
GeneDx RCV000482208 SCV000569604 uncertain significance not specified 2016-11-07 criteria provided, single submitter clinical testing The c.80_100dup21 variant of uncertain significance in the ADAMTS2 gene has not been published as a pathogenic or benign variant to our knowledge. Data from control individuals was not available to assess whether this variant may be a common benign variant in the general population. The c.80_100dup21 variant results in an in-frame duplication of seven amino acids at codons 27 through 33, denoted p.Leu27_Pro33dup, and does not result in a shift in reading frame or a premature stop codon. Thus far, all published pathogenic variants in ADAMTS2 have been loss of function variants, and c.80_100dup21 is not expected to result in a loss of function. Nevertheless, a possible effect of this variant cannot be excluded based on the evidence available. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488098 SCV000575453 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
Invitae RCV000488098 SCV000647142 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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.