Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000677443 | SCV000802945 | 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 frequency in ExAC (PM2) |
Labcorp Genetics |
RCV000677443 | SCV002317008 | likely pathogenic | Mucopolysaccharidosis type 6 | 2022-01-04 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 559669). This missense change has been observed in individual(s) with ARSB-related conditions (PMID: 22976768). This variant is present in population databases (rs756671977, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 351 of the ARSB protein (p.Ser351Phe). |
Gene |
RCV003128723 | SCV003806145 | likely pathogenic | not provided | 2022-08-26 | criteria provided, single submitter | clinical testing | 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: 22976768) |
Baylor Genetics | RCV000677443 | SCV005055414 | likely pathogenic | Mucopolysaccharidosis type 6 | 2024-03-28 | criteria provided, single submitter | clinical testing |