Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001972715 | SCV002237782 | pathogenic | Exostoses, multiple, type 2 | 2023-06-14 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with multiple osteochondromatosis (PMID: 10679937, 31030431). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1457792). This variant is also known as 239-244insG, c.337_338insG. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp82Glyfs*11) 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). |