Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000667026 | SCV000791413 | uncertain significance | Hurler syndrome | 2017-05-10 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001206227 | SCV001377524 | pathogenic | Mucopolysaccharidosis type 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 300 of the IDUA protein (p.Ala300Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 8554071). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 11923). 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 with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
| Revvity Omics, |
RCV003129751 | SCV003817595 | uncertain significance | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000012698 | SCV000032933 | pathogenic | IDUA pseudodeficiency | 1996-01-01 | no assertion criteria provided | literature only | |
| Natera, |
RCV001206227 | SCV002075323 | uncertain significance | Mucopolysaccharidosis type 1 | 2021-03-24 | no assertion criteria provided | clinical testing |