Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
DASA | RCV001291009 | SCV002097272 | pathogenic | Mucopolysaccharidosis, MPS-II | 2022-02-14 | criteria provided, single submitter | clinical testing | The c.814C>T;p.(Gln272*) variant creates a premature translational stop signal in the IDS gene. It is expected to result in an absent or disrupted protein product - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 988685) - PS4. This variant is not present in population databases (gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic. |
Laboratory of Inherited Metabolic Diseases, |
RCV001291009 | SCV001450612 | pathogenic | Mucopolysaccharidosis, MPS-II | no assertion criteria provided | research |