Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
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 |