ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) (rs104894591)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153533 SCV000203061 pathogenic not provided 2013-12-19 criteria provided, single submitter clinical testing
Counsyl RCV000001627 SCV000789321 pathogenic Mucopolysaccharidosis, MPS-III-B 2017-01-25 criteria provided, single submitter clinical testing
Invitae RCV000802847 SCV000942693 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2018-08-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NAGLU gene (p.Arg626*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 118 amino acids of the NAGLU protein. This variant is present in population databases (rs104894591, ExAC 0.02%). This variant has been observed in several individuals affected with mucopolysaccharidosis (PMID: 9832037, 8650226, 10094189). ClinVar contains an entry for this variant (Variation ID: 1561). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001627 SCV000021783 pathogenic Mucopolysaccharidosis, MPS-III-B 1996-06-11 no assertion criteria provided literature only

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.