Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209040 | SCV001380459 | pathogenic | Exostoses, multiple, type 2 | 2019-07-21 | criteria provided, single submitter | clinical testing | 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 been observed in individual(s) affected with multiple osteochondromas (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln384*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. |