Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001385741 | SCV001585703 | pathogenic | Mucopolysaccharidosis, MPS-II | 2020-04-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). This variant has not been reported in the literature in individuals with IDS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp198Glufs*5) in the IDS gene. It is expected to result in an absent or disrupted protein product. |