ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1205A>G (p.Glu402Gly) (rs863225086)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute RCV000202323 SCV000256094 pathogenic Congenital disorder of glycosylation type 1B criteria provided, single submitter research This variant was identified in a male who presented clinically normal until the age of 2 when he became ill with persistent vomiting and venous sinus thrombosis which resulted in a massive stroke. Subsequently he developed a seizure disorder and delayed development. Full metabolic work up was normal except for the presence of a Type I CDG profile. Given his history of normal development prior to the stroke, MPI-CDG was suggested. Enzyme assay concluded he had MPI-CDG. The enzyme assay was performed as previously reported from the Freeze lab, PMID: 9525984. “Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.” Genetic analysis revealed two single nucleotide variants inherited in a compound heterozygous fashion, NM_002435.2:c.1205A>G and NM_002435.2:c.1253G>A. The c.1205A>G variant has not been previously reported in ExAc, dbSNP, or ESP. The predicted protein change for NM_002435.2:c.1205A>G is a Glutamate to Glycine; this residue is moderately conserved (Glu in humans through zebrafish). MutationTaster predicts this mutation to be deleterious.

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.