Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223750 | SCV001395912 | pathogenic | Multiple congenital exostosis | 2022-09-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 951766). This premature translational stop signal has been observed in individual(s) with hereditary multiple osteochondromas (PMID: 17589361, 26622573). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu39*) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). |