Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001972499 | SCV002245759 | pathogenic | MPI-congenital disorder of glycosylation | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln240*) in the MPI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPI are known to be pathogenic (PMID: 19862844). This variant is present in population databases (rs776340315, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MPI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1456895). For these reasons, this variant has been classified as Pathogenic. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV001972499 | SCV003806991 | likely pathogenic | MPI-congenital disorder of glycosylation | 2022-03-02 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PM2 |
Baylor Genetics | RCV001972499 | SCV004193269 | likely pathogenic | MPI-congenital disorder of glycosylation | 2023-10-16 | criteria provided, single submitter | clinical testing |