Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221863 | SCV001393931 | pathogenic | Exostoses, multiple, type 2 | 2019-07-11 | 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 individuals and families affected with multiple osteochondromas (PMID: 17301954, 23262345). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val305Serfs*27) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. |