ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3088+15G>A

gnomAD frequency: 0.00009  dbSNP: rs910578729
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174852 SCV001338242 uncertain significance not specified 2020-02-02 criteria provided, single submitter clinical testing Variant summary: ADAMTS2 c.3088+15G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8.6e-05 in 150452 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in ADAMTS2 causing Ehlers-Danlos Syndrome, Type VIIC (Dermatosparaxis) (8.6e-05 vs 0.0029), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.3088+15G>A in individuals affected with Ehlers-Danlos Syndrome, Type VIIC (Dermatosparaxis) and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV002067866 SCV002391688 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2023-10-14 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.