ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg)

dbSNP: rs895626490
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803573 SCV000943451 uncertain significance Mucopolysaccharidosis type 1 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 450 of the IDUA protein (p.Pro450Arg). 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. ClinVar contains an entry for this variant (Variation ID: 648771). 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 not 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.
Revvity Omics, Revvity RCV003130055 SCV003817639 uncertain significance not provided 2019-08-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000803573 SCV001461765 uncertain significance Mucopolysaccharidosis type 1 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003965596 SCV004783920 uncertain significance IDUA-related disorder 2024-02-05 no assertion criteria provided clinical testing The IDUA c.1349C>G variant is predicted to result in the amino acid substitution p.Pro450Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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