ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1148G>A (p.Arg383His)

gnomAD frequency: 0.00001  dbSNP: rs754949360
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Total submissions: 4
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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, Revvity RCV001784294 SCV002023089 pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001233076 SCV002075337 pathogenic Mucopolysaccharidosis type 1 2020-09-15 no assertion criteria provided clinical testing

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