Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000666715 | SCV000791059 | uncertain significance | Hurler syndrome | 2017-04-25 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003591628 | SCV004292284 | pathogenic | Mucopolysaccharidosis type 1 | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 619 of the IDUA protein (p.Arg619Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Hurler–Scheie syndrome (PMID: 10466419, 12189649). ClinVar contains an entry for this variant (Variation ID: 11924). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on IDUA protein function. Experimental studies have shown that this missense change affects IDUA function (PMID: 10466419, 12189649). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000012699 | SCV000032934 | pathogenic | Mucopolysaccharidosis, MPS-I-H/S | 1999-07-01 | no assertion criteria provided | literature only |