Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001992101 | SCV002280656 | uncertain significance | Mucopolysaccharidosis type 1 | 2022-06-28 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 390 of the IDUA protein (p.Met390Thr). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IDUA protein function. 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. |
Ambry Genetics | RCV003348734 | SCV004074192 | uncertain significance | Inborn genetic diseases | 2023-06-29 | criteria provided, single submitter | clinical testing | The c.1169T>C (p.M390T) alteration is located in exon 8 (coding exon 8) of the IDUA gene. This alteration results from a T to C substitution at nucleotide position 1169, causing the methionine (M) at amino acid position 390 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |