Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059704 | SCV001224342 | pathogenic | Exostoses, multiple, type 2 | 2022-04-15 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individuals with hereditary multiple osteochondromas (PMID: 23262345, 24496678, 28922105). This variant is also known as c.455_458del. ClinVar contains an entry for this variant (Variation ID: 854619). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val154Profs*115) 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). |