Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078454 | SCV000110310 | uncertain significance | not provided | 2018-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001854380 | SCV002186033 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2023-01-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects NAGLU function (PMID: 29979746). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NAGLU protein function. ClinVar contains an entry for this variant (Variation ID: 92691). This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 9443875). This variant is present in population databases (rs375103824, gnomAD 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 455 of the NAGLU protein (p.Tyr455Cys). |