ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1100C>T (p.Thr367Met)

gnomAD frequency: 0.00003  dbSNP: rs782588855
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001410809 SCV001612861 likely benign Mucopolysaccharidosis, MPS-II 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456656 SCV002739074 uncertain significance Inborn genetic diseases 2021-07-22 criteria provided, single submitter clinical testing The p.T367M variant (also known as c.1100C>T), located in coding exon 8 of the IDS gene, results from a C to T substitution at nucleotide position 1100. The threonine at codon 367 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001831453 SCV002084468 likely benign Mucopolysaccharidosis, MPS-III-A 2021-09-03 no assertion criteria provided clinical testing

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.