Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000000936 | SCV000802959 | 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 (demonstrated nonsense mediated RNA decay; low to no ARSB activity in homozygotes; PS3); Very low frequency in ExAC (PM2); Multiple lines of computational evidence support a deleterious effect on the gene product (PP3); Reputable source identifies as pathogenic (PP5) |
| Invitae | RCV000000936 | SCV002159481 | pathogenic | Mucopolysaccharidosis type 6 | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 5 of the ARSB gene. It does not directly change the encoded amino acid sequence of the ARSB protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs431905496, gnomAD 0.003%). This variant has been observed in individuals with mucopolysaccharidosis type VI (PMID: 16435196, 18406185). ClinVar contains an entry for this variant (Variation ID: 888). Studies have shown that this variant results in skipping of exon 6 and introduces a premature termination codon (PMID: 17643332). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV000000936 | SCV002810874 | pathogenic | Mucopolysaccharidosis type 6 | 2022-03-31 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000000936 | SCV000021086 | pathogenic | Mucopolysaccharidosis type 6 | 2007-09-01 | no assertion criteria provided | literature only |