ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) (rs104894596)

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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000001637 SCV000746455 pathogenic Mucopolysaccharidosis, MPS-III-B 2017-12-03 criteria provided, single submitter clinical testing
Counsyl RCV000001637 SCV000788455 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2018-02-15 criteria provided, single submitter clinical testing
Invitae RCV001214384 SCV001386063 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-04-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 482 of the NAGLU protein (p.Arg482Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs104894596, ExAC 0.008%). This variant has been observed to be homozygous or in combination with another NAGLU variant in several individuals affected with MPS IIIB (PMID: 9950362, 16151907, 23667853, 16447797, 12202988, 28018442). ClinVar contains an entry for this variant (Variation ID: 1571). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001637 SCV000021793 pathogenic Mucopolysaccharidosis, MPS-III-B 2002-01-01 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.