Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674420 | SCV000799754 | likely pathogenic | Hurler syndrome | 2018-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001233076 | SCV001405656 | pathogenic | Mucopolysaccharidosis type 1 | 2023-09-21 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 383 of the IDUA protein (p.Arg383His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with IDUA-related conditions (PMID: 7550242, 12559846, 23786846). ClinVar contains an entry for this variant (Variation ID: 558189). 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. Experimental studies have shown that this missense change affects IDUA function (PMID: 12559846). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001784294 | SCV002023089 | pathogenic | not provided | 2022-05-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001233076 | SCV002075337 | pathogenic | Mucopolysaccharidosis type 1 | 2020-09-15 | no assertion criteria provided | clinical testing |