ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.238C>T (p.Gln80Ter) (rs1569560527)

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
Integrated Genetics/Laboratory Corporation of America RCV000781472 SCV000919529 pathogenic Mucopolysaccharidosis, MPS-II 2018-07-24 criteria provided, single submitter clinical testing Variant summary: IDS c.238C>T (p.Gln80X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 169233 control chromosomes (gnomAD). The variant, c.238C>T, has been reported in the literature in individuals affected with severe Mucopolysaccharidosis Type II (Hunter Syndrome) (Carrozzo 1996, Vafiadaki 1998, Wang 2014, Parkinson 2004). These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function, by determining enzyme activity from the plasma of patients (Parkinson 2004). The most pronounced variant effect results in <10% of normal activity. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as 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.