Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001986995 | SCV002285389 | pathogenic | Mucopolysaccharidosis, MPS-III-A | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 275 of the SGSH protein (p.Gly275Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 21204211). ClinVar contains an entry for this variant (Variation ID: 1494107). 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 SGSH protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV003156370 | SCV003845495 | likely pathogenic | not provided | 2023-03-22 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25807448, 21204211, 35629088) |
| Baylor Genetics | RCV001986995 | SCV004201118 | likely pathogenic | Mucopolysaccharidosis, MPS-III-A | 2023-06-04 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV001986995 | SCV004237252 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2023-03-30 | criteria provided, single submitter | clinical testing |