ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.328A>G (p.Arg110Gly)

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
Invitae RCV001378371 SCV001575923 likely pathogenic Mucopolysaccharidosis, MPS-II 2020-06-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 110 of the IDS protein (p.Arg110Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with mucopolysaccharidosis II (PMID: 30639582, Invitae). This variant has been reported to affect IDS protein function (PMID: 30639582). This variant disrupts the p.Arg110 amino acid residue in IDS. Other variant(s) that disrupt this residue have been observed in individuals with IDS-related conditions (PMID: 27246110), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.