ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)

dbSNP: rs387906504
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
Invitae RCV001233538 SCV001406138 pathogenic Mucopolysaccharidosis type 1 2019-09-30 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the IDUA mRNA. It is expected to extend the length of the IDUA protein by 55 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect IDUA protein function (PMID: 29282708). This variant has been observed in several individuals affected with IDUA-related conditions (PMID: 21394825, 29282708).
GeneReviews RCV001233538 SCV002016351 not provided Mucopolysaccharidosis type 1 no assertion provided literature only Variant causes attenuated MPS I; predict extension of α-L-iduronidase at the carboxyl end that may change conformation and/or stability of enzyme.

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.