Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781472 | SCV000919529 | pathogenic | Mucopolysaccharidosis, MPS-II | 2018-07-24 | criteria provided, single submitter | clinical testing | Variant summary: IDS c.238C>T (p.Gln80X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 169233 control chromosomes (gnomAD). The variant, c.238C>T, has been reported in the literature in individuals affected with severe Mucopolysaccharidosis Type II (Hunter Syndrome) (Carrozzo 1996, Vafiadaki 1998, Wang 2014, Parkinson 2004). These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function, by determining enzyme activity from the plasma of patients (Parkinson 2004). The most pronounced variant effect results in <10% of normal activity. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Invitae | RCV000781472 | SCV001211912 | pathogenic | Mucopolysaccharidosis, MPS-II | 2021-08-20 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV000781472 | SCV002014485 | pathogenic | Mucopolysaccharidosis, MPS-II | 2021-09-05 | criteria provided, single submitter | clinical testing |