Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001234386 | SCV001407029 | pathogenic | Exostoses, multiple, type 2 | 2023-02-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp394*) 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 multiple osteochondromatosis (PMID: 12490068). ClinVar contains an entry for this variant (Variation ID: 960792). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV002462858 | SCV002757291 | pathogenic | not provided | 2022-11-14 | criteria provided, single submitter | clinical testing | 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 17589361, 29529714, 12490068, 25230886, 30334991, 30730578) |