Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001316608 | SCV001507239 | uncertain significance | Mucopolysaccharidosis type 1 | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with serine at codon 25 of the IDUA protein (p.Pro25Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with IDUA-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Natera, |
RCV001316608 | SCV002083080 | uncertain significance | Mucopolysaccharidosis type 1 | 2021-03-01 | no assertion criteria provided | clinical testing |