Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001390840 | SCV001592702 | pathogenic | Exostoses, multiple, type 2 | 2023-03-29 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with clinical features of multiple osteochondromatosis (Invitae). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076816). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His262Serfs*2) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). |