Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000641564 | SCV000763206 | pathogenic | Exostoses, multiple, type 2 | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg23*) 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 present in population databases (rs754533434, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with multiple osteochondromas (PMID: 9463333, 25591329, 25744876). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 534138). For these reasons, this variant has been classified as Pathogenic. |
Institute of Medical Genetics and Applied Genomics, |
RCV001268416 | SCV001447339 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001268416 | SCV001816409 | pathogenic | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing | Identified in patients with hereditary multiple osteochondromas referred for genetic testing at GeneDx and in published literature (Wuyts et al., 1998; Li et al., 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 29541207, 25744876, 25591329, 30334991, 30806661, 28690282, 35806987, 9463333) |
Baylor Genetics | RCV000641564 | SCV004192810 | pathogenic | Exostoses, multiple, type 2 | 2023-08-23 | criteria provided, single submitter | clinical testing |