Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001568371 | SCV005842369 | pathogenic | Mucopolysaccharidosis, MPS-II | 2025-02-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp502*) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 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 individual(s) with Hunter syndrome (PMID: 7492967, 9660053, 21829674, 35144014). ClinVar contains an entry for this variant (Variation ID: 997034). For these reasons, this variant has been classified as Pathogenic. |
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001568371 | SCV005089618 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2024-06-07 | criteria provided, single submitter | literature only | Null variant (PVS1_Strong), Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Supporting), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate) |
| Genome- |
RCV001568371 | SCV002014465 | pathogenic | Mucopolysaccharidosis, MPS-II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
| Department of Medical Genetics, |
RCV001568371 | SCV001480464 | pathogenic | Mucopolysaccharidosis, MPS-II | criteria provided, single submitter | clinical testing |