Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001231643 | SCV001404171 | pathogenic | Mucopolysaccharidosis type 1 | 2019-10-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.His82Serfs*50) in the IDUA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IDUA-related conditions. Loss-of-function variants in IDUA are known to be pathogenic (PMID: 11735025, 21480867). |