Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386701 | SCV001587040 | pathogenic | Exostoses, multiple, type 2 | 2020-10-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This nonsense change has been observed in individual(s) with multiple osteochondromas (PMID: 28849184, 19810120). It is also known as p.Trp462*. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp429*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). |