ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002923337 SCV003268593 uncertain significance Mucopolysaccharidosis type 1 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 350 of the IDUA protein (p.Asn350Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs747827435, ExAC 0.01%). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Revvity Omics, Revvity RCV003134548 SCV003817585 uncertain significance not provided 2023-10-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989143 SCV004805723 uncertain significance Hurler syndrome 2024-03-29 criteria provided, single submitter clinical testing

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