Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204065 | SCV001375253 | pathogenic | Exostoses, multiple, type 2 | 2023-12-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln336*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary multiple osteochondromatosis (PMID: 19504431). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 935468). For these reasons, this variant has been classified as Pathogenic. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001204065 | SCV002061385 | pathogenic | Exostoses, multiple, type 2 | 2021-05-12 | criteria provided, single submitter | clinical testing | PVS1, PP1, PM2 |