Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001239862 | SCV001412764 | pathogenic | Multiple congenital exostosis | 2019-06-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys218Glnfs*3) 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 individuals affected with multiple osteochondromas (PMID: 19839753, 26961984, 24496678). The variant is also known as p.Lys218fsX220 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. |