ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) (rs796052122)

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
GeneDx RCV000423370 SCV000516177 pathogenic not provided 2015-03-30 criteria provided, single submitter clinical testing The I403T missense variant in the NAGLU gene has been reported previously in association withmucopolysaccharidosis IIIB (MPS IIIB) in an individual who was also heterozygous for another variant inNAGLU (Valstar et al., 2010). The I403T variant is a non-conservative amino acid substitution, which islikely to impact secondary protein structure as these residues differ in polarity, charge, size and/or otherproperties. This substitution occurs at a position that is conserved across species and in silico analysispredicts this variant is probably damaging to the protein structure/function. Furthermore, missense variants in nearby residues (F410S,G412E) have been reported in the Human Gene Mutation Database in associationwith MPS IIIB (Stenson et al., 2014), supporting the functional importance of this region of theprotein. Therefore, we interpret I403T to be a pathogenic variant.
GeneReviews RCV000186582 SCV000266395 pathogenic Charcot-Marie-Tooth disease, axonal type 2V 2016-03-24 no assertion criteria provided literature only
OMIM RCV000186582 SCV000240158 pathogenic Charcot-Marie-Tooth disease, axonal type 2V 2015-06-01 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.