Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001862440 | SCV002233895 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2023-08-04 | 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: 830367). This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 20852935, 26907177). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 497 of the NAGLU protein (p.Leu497Val). |
Gene |
RCV001030811 | SCV001194300 | not provided | Mucopolysaccharidosis | no assertion provided | literature only |