ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)

dbSNP: rs1555622606
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673016 SCV000798180 uncertain significance Mucopolysaccharidosis, MPS-III-B 2018-02-27 criteria provided, single submitter clinical testing
Invitae RCV002532140 SCV002947311 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2022-06-29 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the NAGLU gene (p.*744Trpext*1). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last amino acid(s) of the NAGLU protein and extend the protein by 1 additional amino acid residues. 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: 556946). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.