Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000811149 | SCV000951400 | pathogenic | Mucopolysaccharidosis type 1 | 2019-09-21 | 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 been observed in individuals affected with mucopolysaccharidosis type I (PMID: 11735025, 17407067). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln60*) in the IDUA gene. It is expected to result in an absent or disrupted protein product. |
Natera, |
RCV000811149 | SCV002083087 | pathogenic | Mucopolysaccharidosis type 1 | 2021-10-11 | no assertion criteria provided | clinical testing |