Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001237335 | SCV001410092 | pathogenic | Multiple congenital exostosis | 2019-08-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln493*) in the EXT1 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 EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). This variant has been observed in an individual affected with multiple osteochondromas (PMID: 18165274). This variant is not present in population databases (ExAC no frequency). |
Laboratory of Medical Genetics, |
RCV003313999 | SCV004013954 | pathogenic | Exostoses, multiple, type 1 | 2022-09-29 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP5 |