Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003499967 | SCV004294765 | pathogenic | Exostoses, multiple, type 2 | 2022-12-24 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with EXT2-related conditions (PMID: 29126381). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr226*) 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). |