ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.385+1G>C

dbSNP: rs780615798
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667145 SCV000791552 pathogenic Hurler syndrome 2017-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387753 SCV001588465 pathogenic Mucopolysaccharidosis type 1 2023-11-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the IDUA 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 IDUA are known to be pathogenic (PMID: 11735025, 21480867). This variant is present in population databases (rs780615798, gnomAD no frequency). Disruption of this splice site has been observed in individuals with Hurler or Hurler/Scheie syndrome (PMID: 25098213). ClinVar contains an entry for this variant (Variation ID: 551966). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000675601 SCV000801297 pathogenic not provided 2017-06-21 no assertion criteria provided clinical testing
Natera, Inc. RCV001387753 SCV002083100 pathogenic Mucopolysaccharidosis type 1 2018-07-17 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.