Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008755 | SCV001168537 | pathogenic | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | Frameshift 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: 18976157, 9521425) |
Invitae | RCV001386491 | SCV001586734 | pathogenic | Multiple congenital exostosis | 2023-06-04 | 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: 817594). This variant is also known as 1866del4. This premature translational stop signal has been observed in individual(s) with multiple exostoses (PMID: 9521425, 18976157). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg405Serfs*19) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). |