Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001851534 | SCV002238831 | pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2022-03-19 | 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 HGSNAT function (PMID: 19823584). 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 HGSNAT protein function. ClinVar contains an entry for this variant (Variation ID: 1238). This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 17397050, 18024218). This variant is present in population databases (rs121908286, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 518 of the HGSNAT protein (p.Ser518Phe). |
OMIM | RCV000001297 | SCV000021447 | pathogenic | Mucopolysaccharidosis, MPS-III-C | 2011-10-01 | no assertion criteria provided | literature only | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723529 | SCV001957023 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001723529 | SCV001966068 | pathogenic | not provided | no assertion criteria provided | clinical testing |