Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410869 | SCV000485647 | likely pathogenic | MPI-congenital disorder of glycosylation | 2016-01-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000410869 | SCV002944359 | pathogenic | MPI-congenital disorder of glycosylation | 2023-12-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys218*) 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 not present in population databases (gnomAD no frequency). 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: 370355). For these reasons, this variant has been classified as Pathogenic. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000410869 | SCV003807505 | likely pathogenic | MPI-congenital disorder of glycosylation | 2022-10-17 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PM2 moderated |