ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)

gnomAD frequency: 0.00001  dbSNP: rs886043792
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
Eurofins Ntd Llc (ga) RCV000332868 SCV000342029 pathogenic not provided 2016-06-04 criteria provided, single submitter clinical testing
Invitae RCV001068161 SCV001233253 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln232*) in the NAGLU gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NAGLU are known to be pathogenic (PMID: 9832037, 10094189, 16151907). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NAGLU-related conditions. ClinVar contains an entry for this variant (Variation ID: 288040). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000984288 SCV001132438 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-02-07 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.