Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003470171 | SCV004193705 | likely pathogenic | MPI-congenital disorder of glycosylation | 2023-06-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003470171 | SCV004673330 | pathogenic | MPI-congenital disorder of glycosylation | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly227*) 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. For these reasons, this variant has been classified as Pathogenic. |