Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244194 | SCV001417398 | pathogenic | Multiple congenital exostosis | 2019-10-08 | 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.Ile275*) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) affected with multiple osteochondromas (PMID: 19810120). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). |