Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380813 | SCV001578993 | pathogenic | Multiple congenital exostosis | 2020-01-06 | 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 individual(s) with multiple osteochondromatosis (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln376Lysfs*5) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. |