Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003085008 | SCV003483561 | uncertain significance | Mucopolysaccharidosis type 1 | 2022-10-25 | criteria provided, single submitter | clinical testing | This variant, c.46_57dup, results in the insertion of 4 amino acid(s) of the IDUA protein (p.Ser16_Ala19dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |