ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2561_2562del (p.Val854fs)

dbSNP: rs1554124086
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 RCV000599211 SCV000710632 likely pathogenic not provided 2018-02-06 criteria provided, single submitter clinical testing The c.2561_2562delTG variant in the ADAMTS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2561_2562delTG variant causes a frameshift starting with codon Valine 854, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 73 of the new reading frame, denoted p.Val854GlyfsX73. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2561_2562delTG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2561_2562delTG as a likely pathogenic variant.
Mendelics RCV002248814 SCV002517515 pathogenic Ehlers-Danlos syndrome, dermatosparaxis type 2022-05-04 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.