ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1087del (p.Ala363fs)

dbSNP: rs2141209567
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377577 SCV001574947 pathogenic MPI-congenital disorder of glycosylation 2023-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1066557). 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.Ile398Thr) have been determined to be pathogenic (PMID: 10484808, 30545931). 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 (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala363Hisfs*9) in the MPI gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the MPI protein.
Baylor Genetics RCV001377577 SCV004193721 likely pathogenic MPI-congenital disorder of glycosylation 2022-11-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001377577 SCV002089792 likely pathogenic MPI-congenital disorder of glycosylation 2020-07-21 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.