Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050372 | SCV001214475 | pathogenic | Multiple congenital exostosis | 2021-08-09 | criteria provided, single submitter | clinical testing | 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). This variant has been observed in an individual affected with multiple osteochondromas (PMID: 17041877). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln398*) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. |