Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001597500 | SCV001832524 | pathogenic | not provided | 2020-04-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003497927 | SCV004294763 | pathogenic | Exostoses, multiple, type 2 | 2023-08-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1224433). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal dominant EXT2-related conditions (PMID: 23439489). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp180*) 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). |
Ce |
RCV001597500 | SCV004704317 | pathogenic | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | EXT2: PVS1, PM2, PS4:Moderate, PP4 |