ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.922G>C (p.Asp308His)

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 RCV001375842 SCV001572614 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-06-01 no assertion criteria provided research The change c.922G>C (p.D308H) was a missense variant, where the acidic polar negative amino acid Aspartic acid at 333 position was substituted by aromatic basic polar amino acid Histidine. It was detected in a hemizygous state in one male patient with sever phenotype from New Delhi, 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.