ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) (rs140022033)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425659 SCV000511976 uncertain significance not specified 2017-10-26 criteria provided, single submitter clinical testing The R932Q variant in the ADAMTS2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI Exome Sequencing Project reports R932Q was observed in 18/8600 (0.2%) alleles from individuals of European American background, indicating it may be a rare variant in this population. The R932Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R932Q as a variant of uncertain significance.
Invitae RCV000560281 SCV000647126 likely benign Ehlers-Danlos syndrome, type vii, autosomal recessive 2017-11-07 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.