ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)

gnomAD frequency: 0.00001  dbSNP: rs886043347
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 RCV000672407 SCV000797508 pathogenic Hurler syndrome 2018-01-30 criteria provided, single submitter clinical testing
Invitae RCV001380047 SCV001577977 pathogenic Mucopolysaccharidosis type 1 2023-11-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 633 of the IDUA protein (p.Ser633Leu). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with mucopolysaccharidosis (PMID: 11735025, 16438163, 21480867, 26825088, 27146977). ClinVar contains an entry for this variant (Variation ID: 556406). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on IDUA protein function. Experimental studies have shown that this missense change affects IDUA function (PMID: 11735025). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002499181 SCV002810317 pathogenic Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2022-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001380047 SCV002075394 pathogenic Mucopolysaccharidosis type 1 2020-04-09 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.