ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.200T>A (p.Ile67Asn)

dbSNP: rs1064793026
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
GeneDx RCV000479964 SCV000564591 likely pathogenic not provided 2015-07-23 criteria provided, single submitter clinical testing The I67N variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (S65F, L72P/Q/R) have been reported in the Human Gene Mutation Database in association with mucopolysaccharidosis VI (MPS VI) (Stenson et al., 2014), supporting the functional importance of this region of the protein.

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.