Total submissions: 11
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Foundation for Research in Genetics and Endocrinology, |
RCV000011232 | SCV007095897 | pathogenic | Mucopolysaccharidosis, MPS-II | 2025-10-08 | criteria provided, single submitter | clinical testing | A hemizygous nonsense variant in exon 9 of the IDS gene that results in the stop codon and truncation of the protein at codon 443 was detected. The observed variant c.1327C>T (p.Arg443Ter) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is deleterious by MutationTaster2 and DANN. The variant has previously been reported in patients with MPS II (PMID:21291454). In summary, the variant meets our criteria to be classified as pathogenic. |
| Laboratory of Genetics, |
RCV005434600 | SCV006105571 | pathogenic | not provided | 2025-02-16 | criteria provided, single submitter | clinical testing | |
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000011232 | SCV005089526 | pathogenic | Mucopolysaccharidosis, MPS-II | 2024-06-07 | criteria provided, single submitter | literature only | Null variant (PVS1_Strong), In vitro or in vivo functional studies supportive of a damaging effect (PS3_Moderate), Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Strong), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Cosegregation with disease in multiple affected family members (PP1_Moderate), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate) |
| Centre of Medical Genetics, |
RCV004584323 | SCV002577793 | pathogenic | See cases | 2021-12-20 | criteria provided, single submitter | clinical testing | ACMG categories: PVS1,PM2,PP5 |
| Genome- |
RCV000011232 | SCV002014470 | pathogenic | Mucopolysaccharidosis, MPS-II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
| Department of Medical Genetics, |
RCV000011232 | SCV001480523 | pathogenic | Mucopolysaccharidosis, MPS-II | criteria provided, single submitter | clinical testing | ||
| Labcorp Genetics |
RCV000011232 | SCV000940520 | pathogenic | Mucopolysaccharidosis, MPS-II | 2025-11-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg443*) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acid(s) of the IDS protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with mucopolysaccharidosis II (PMID: 1303211, 18500569, 21291454, 21829674, 27146977). ClinVar contains an entry for this variant (Variation ID: 10486). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic. |
| IIFP, |
RCV000011232 | SCV000262530 | pathogenic | Mucopolysaccharidosis, MPS-II | 2012-12-13 | criteria provided, single submitter | research | |
| Natera, |
RCV001831559 | SCV002084457 | pathogenic | Mucopolysaccharidosis, MPS-III-A | 2020-12-08 | no assertion criteria provided | clinical testing | |
| Beijing Key Laboratory for Genetic Research of Skeletal Deformity, |
RCV000011232 | SCV001482335 | pathogenic | Mucopolysaccharidosis, MPS-II | 2019-05-31 | no assertion criteria provided | research | |
| OMIM | RCV000011232 | SCV000031459 | pathogenic | Mucopolysaccharidosis, MPS-II | 1993-01-01 | no assertion criteria provided | literature only |