ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1249C>T (p.Gln417Ter)

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
Pediatrics,All India Institute of Medical Sciences, New Delhi RCV001375672 SCV001572557 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-03-01 no assertion criteria provided research The change c.1249C>T (p.Q417*) was found to be a novel nonsense variant, where the polar neutral amino acid Glutamine at 417 position was substituted by stop codon leading to early truncation of the peptide. It was found in the hemizygous condition in two of the severly affected male sibs with MPS-II in a family from the state of Bihar, India.

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.