ClinVar Miner

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

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Total submissions: 4
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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 2019-04-09 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

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