Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001313928 | SCV001504439 | uncertain significance | Mucopolysaccharidosis type 1 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with proline at codon 422 of the IDUA protein (p.Ala422Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with IDUA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Revvity Omics, |
RCV003132397 | SCV003817582 | uncertain significance | not provided | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001313928 | SCV002075349 | uncertain significance | Mucopolysaccharidosis type 1 | 2021-08-24 | no assertion criteria provided | clinical testing |