Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380663 | SCV001578791 | pathogenic | Mucopolysaccharidosis type 1 | 2020-08-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IDUA are known to be pathogenic (PMID: 11735025, 21480867). This variant has not been reported in the literature in individuals with IDUA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln285Serfs*32) in the IDUA gene. It is expected to result in an absent or disrupted protein product. |