Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001224756 | SCV001396976 | pathogenic | Ehlers-Danlos syndrome, dermatosparaxis type | 2019-04-13 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His282Profs*19) in the ADAMTS2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ADAMTS2-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ADAMTS2 are known to be pathogenic (PMID: 10417273). |