ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=) (rs423552)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000330251 SCV000456878 benign Ehlers-Danlos syndrome dermatosparaxis type 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000435641 SCV000520269 benign not specified 2016-09-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000589419 SCV000699366 benign not provided 2016-11-25 criteria provided, single submitter clinical testing Variant summary: The ADAMTS2 c.786G>A (p.Ala262Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 112782/121320 control chromosomes (52500 homozygotes) at a frequency of 0.9296241, which is approximately 322 times the estimated maximal expected allele frequency of a pathogenic ADAMTS2 variant (0.0028868), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000330251 SCV000734400 benign Ehlers-Danlos syndrome dermatosparaxis type no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000330251 SCV000745664 benign Ehlers-Danlos syndrome dermatosparaxis type 2014-11-19 no assertion criteria provided 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.