Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031697 | SCV001195003 | pathogenic | Multiple congenital exostosis | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon(s) 2-8 of the EXT1 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). A similar copy number variant has been observed in individual(s) with hereditary multiple osteochondromas (Invitae). For these reasons, this variant has been classified as Pathogenic. |