Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002923337 | SCV003268593 | uncertain significance | Mucopolysaccharidosis type 1 | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with aspartic acid at codon 350 of the IDUA protein (p.Asn350Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs747827435, ExAC 0.01%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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, |
RCV003134548 | SCV003817585 | uncertain significance | not provided | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003989143 | SCV004805723 | uncertain significance | Hurler syndrome | 2024-03-29 | criteria provided, single submitter | clinical testing |