Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205362 | SCV001376614 | pathogenic | Multiple congenital exostosis | 2023-02-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg227*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with multiple exostoses (PMID: 11170095, 12239711). ClinVar contains an entry for this variant (Variation ID: 936545). For these reasons, this variant has been classified as Pathogenic. |