Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001381788 | SCV001580287 | pathogenic | Mucopolysaccharidosis type 1 | 2020-09-20 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln196Alafs*203) in the IDUA gene. It is expected to result in an absent or disrupted protein product. 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). For these reasons, this variant has been classified as Pathogenic. |