Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001387354 | SCV005089008 | pathogenic | Mucopolysaccharidosis, MPS-II | 2024-06-07 | criteria provided, single submitter | literature only | Null variant (PVS1_VeryStrong), 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_Strong) |
| Labcorp Genetics |
RCV001387354 | SCV001587966 | pathogenic | Mucopolysaccharidosis, MPS-II | 2024-09-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln121*) in the IDS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with IDS-related conditions (PMID: 22976768, 28077157). ClinVar contains an entry for this variant (Variation ID: 1074140). For these reasons, this variant has been classified as Pathogenic. |