ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.880dup (p.Val294fs)

dbSNP: rs1555479351
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665285 SCV000789378 likely pathogenic MPI-CDG 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV000665285 SCV001590071 pathogenic MPI-CDG 2020-09-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val294Glyfs*11) in the MPI gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MPI-related conditions. ClinVar contains an entry for this variant (Variation ID: 550519). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MPI are known to be pathogenic (PMID: 19862844). For these reasons, this variant has been classified as Pathogenic.

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.