Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078005 | SCV000109843 | pathogenic | not provided | 2014-01-07 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000677616 | SCV000803134 | likely pathogenic | Mucopolysaccharidosis type 6 | 2018-01-01 | criteria provided, single submitter | curation | In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Very low frequencyin GnomAD (PM2); Reputable source identifies as pathogenic (PP5) |
Invitae | RCV000677616 | SCV000835529 | pathogenic | Mucopolysaccharidosis type 6 | 2024-01-21 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 324 of the ARSB protein (p.Gly324Val). This variant is present in population databases (rs398123125, gnomAD 0.007%). This missense change has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 17458871, 23557332; Invitae). ClinVar contains an entry for this variant (Variation ID: 92356). 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 ARSB protein function with a positive predictive value of 95%. Studies have shown that this missense change alters ARSB gene expression (PMID: 23557332). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV001266364 | SCV001444538 | pathogenic | Inborn genetic diseases | 2018-05-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000677616 | SCV002809864 | likely pathogenic | Mucopolysaccharidosis type 6 | 2021-11-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000677616 | SCV004209125 | likely pathogenic | Mucopolysaccharidosis type 6 | 2023-09-08 | criteria provided, single submitter | clinical testing |