ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)

dbSNP: rs2089342939
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 RCV001041100 SCV001204696 likely pathogenic Mucopolysaccharidosis, MPS-II 2019-12-11 criteria provided, single submitter clinical testing This variant has been observed in an individual affected with mucopolysaccharidosis type II (PMID: 27883178). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 347 of the IDS protein (p.Lys347Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant disrupts the p.Lys347 amino acid residue in IDS. Other variant(s) that disrupt this residue have been observed in individuals with IDS-related conditions (PMID: 11731225, 9266380, 8940265, 9222763, 15614569), which suggests that this may be a clinically significant amino acid residue.

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.