ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)

dbSNP: rs375819348
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056126 SCV001220547 uncertain significance Mucopolysaccharidosis type 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 493 of the IDUA protein (p.Pro493Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002482011 SCV002784030 uncertain significance Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2021-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553808 SCV003637209 uncertain significance Inborn genetic diseases 2022-09-08 criteria provided, single submitter clinical testing The c.1478C>G (p.P493R) alteration is located in exon 10 (coding exon 10) of the IDUA gene. This alteration results from a C to G substitution at nucleotide position 1478, causing the proline (P) at amino acid position 493 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003132186 SCV003809970 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992435 SCV004809510 uncertain significance Hurler syndrome 2024-04-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001056126 SCV001461766 uncertain significance Mucopolysaccharidosis type 1 2020-09-16 no assertion criteria provided clinical testing

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