Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382698 | SCV001581600 | pathogenic | Mucopolysaccharidosis, MPS-II | 2020-08-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed to be hemizygous in individuals affected with MPS II (PMID: 21291454, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the IDS gene (p.Arg468Glyfs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acids of the IDS protein. |