Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001311056 | SCV001501085 | likely pathogenic | not provided | 2020-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001390335 | SCV001592020 | pathogenic | MPI-congenital disorder of glycosylation | 2021-10-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MPI protein in which other variant(s) (p.Ala363Hisfs*9) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with MPI-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser355Cysfs*3) in the MPI gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the MPI protein. |