Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054847 | SCV001219202 | pathogenic | Multiple congenital exostosis | 2019-01-28 | 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). This variant has been observed in an individual affected with multiple osteochondromas (PMID: 17041877). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp164Profs*24) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. |
Gene |
RCV002469332 | SCV002765633 | pathogenic | not provided | 2022-12-18 | criteria provided, single submitter | clinical testing | Identified in an individual with clinical and radiographical diagnosis of multiple osteochondromas in the published literature (PMID: 17041877); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17041877) |