Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090845 | SCV001246599 | pathogenic | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001377261 | SCV001574547 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2023-10-15 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 452 of the NAGLU protein (p.Glu452Lys). This variant is present in population databases (no rsID available, gnomAD 0.02%). This missense change has been observed in individuals with mucopolysaccharidosis type III (PMID: 9950362, 14984474; Invitae). ClinVar contains an entry for this variant (Variation ID: 871076). 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. For these reasons, this variant has been classified as Pathogenic. |