Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001057241 | SCV001221724 | pathogenic | Multiple congenital exostosis | 2019-11-25 | 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of hereditary muliple exostosis (PMID:23262345, 28690282). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr117*) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. |