Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biochimie Médicale et Biologie Moléculaire, |
RCV000991070 | SCV001132046 | pathogenic | Multiple congenital exostosis | 2019-12-18 | criteria provided, single submitter | clinical testing | Variant reported in Francannet C. et al. (2001) in 1 family and absent from gnomAD or ExAC. |
Invitae | RCV000991070 | SCV001390872 | pathogenic | Multiple congenital exostosis | 2019-04-04 | criteria provided, single submitter | clinical testing | 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 sequence change creates a premature translational stop signal (p.Tyr592Thrfs*29) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with multiple exostoses (PMID: 11342960). This variant is also known as G591fs in the literature. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). For these reasons, this variant has been classified as Pathogenic. |