Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001057844 | SCV001222359 | pathogenic | Exostoses, multiple, type 2 | 2019-03-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr201Serfs*33) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). This variant has not been reported in the literature in individuals with EXT2-related conditions. This variant is not present in population databases (ExAC no frequency). |