Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169342 | SCV000220704 | likely pathogenic | MPI-congenital disorder of glycosylation | 2014-09-17 | criteria provided, single submitter | literature only | |
Invitae | RCV000169342 | SCV000938225 | pathogenic | MPI-congenital disorder of glycosylation | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg56Profs*8) 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 (rs786204593, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with congenital disorders of glycosylation type Ib (PMID: 10980531, 18928705). ClinVar contains an entry for this variant (Variation ID: 188967). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000169342 | SCV004193711 | pathogenic | MPI-congenital disorder of glycosylation | 2023-04-22 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000169342 | SCV000035685 | pathogenic | MPI-congenital disorder of glycosylation | 2000-09-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000169342 | SCV002089776 | pathogenic | MPI-congenital disorder of glycosylation | 2017-08-02 | no assertion criteria provided | clinical testing |