ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.263G>A (p.Arg88His)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222779 SCV001394895 pathogenic Mucopolysaccharidosis, MPS-II 2019-04-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 88 of the IDS protein (p.Arg88His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in several individuals and families affected with mucopolysaccharidosis II (PMID: 8940265, 24515576, 10215411, 24125893, 27146977). This variant has been reported to affect IDS protein function (PMID: 10838181). This variant disrupts the p.Arg88 amino acid residue in IDS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7814022, 8940265, 9950361 , 15614569, 17063374, 22990955, 24125893, 26762690). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001222779 SCV001479336 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
Pediatrics,All India Institute of Medical Sciences, New Delhi RCV001222779 SCV001573786 affects Mucopolysaccharidosis, MPS-II 2014-04-06 no assertion criteria provided research The change c.263G>A (p.R88H) was found to be a missense variant, where the basic polar amino acid Arginine at 88 position was substituted by aromatic basic polar amino acid Histidine. It was detected in the hemizygous condition in three families having patients with MPS-II, of which two have attenuated phenotypes from Madhya Pradesh and Uttar Pradesh while one with severe phenotype from Uttrakhand.

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.