Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413143 | SCV000491271 | pathogenic | not provided | 2023-01-28 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect, including inactive or significantly reduced enzymatic activity (Muschol et al., 2004); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24816101, 21061399, 19099774, 25807448, 15146460, 29023963, 34813777, 31069529, 34047372, 34991944) |
Invitae | RCV000672002 | SCV002281415 | pathogenic | Mucopolysaccharidosis, MPS-III-A | 2024-01-24 | 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 191 of the SGSH protein (p.Gly191Arg). This variant is present in population databases (rs753666460, gnomAD 0.01%). This missense change has been observed in individuals with mucopolysaccharidosis type III (PMID: 15146460, 21061399, 23084433, 34813777). ClinVar contains an entry for this variant (Variation ID: 372781). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SGSH protein function. Experimental studies have shown that this missense change affects SGSH function (PMID: 15146460). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000672002 | SCV002813988 | likely pathogenic | Mucopolysaccharidosis, MPS-III-A | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Intergen, |
RCV000672002 | SCV004015112 | pathogenic | Mucopolysaccharidosis, MPS-III-A | 2023-07-21 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000672002 | SCV004201088 | pathogenic | Mucopolysaccharidosis, MPS-III-A | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000672002 | SCV000797053 | likely pathogenic | Mucopolysaccharidosis, MPS-III-A | 2018-01-15 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000672002 | SCV002095135 | likely pathogenic | Mucopolysaccharidosis, MPS-III-A | 2020-12-28 | no assertion criteria provided | clinical testing |