Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412150 | SCV000487168 | likely pathogenic | MPI-congenital disorder of glycosylation | 2016-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000412150 | SCV001581386 | pathogenic | MPI-congenital disorder of glycosylation | 2023-04-18 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 4 of the MPI gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MPI are known to be pathogenic (PMID: 19862844). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 371556). This variant is also known as IVS4-1G>C. Disruption of this splice site has been observed in individual(s) with MPI-congenital disorder of glycosylation (PMID: 10980531). This variant is present in population databases (rs759579169, gnomAD 0.002%). |
Fulgent Genetics, |
RCV000412150 | SCV002786881 | pathogenic | MPI-congenital disorder of glycosylation | 2022-03-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000412150 | SCV004193704 | pathogenic | MPI-congenital disorder of glycosylation | 2023-06-26 | criteria provided, single submitter | clinical testing |