ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)

gnomAD frequency: 0.00001  dbSNP: rs763375487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948373 SCV002205230 uncertain significance Mucopolysaccharidosis type 1 2022-02-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 200 of the IDUA protein (p.Asn200Lys). This variant is present in population databases (rs763375487, gnomAD 0.02%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002507611 SCV002814670 uncertain significance Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2022-03-31 criteria provided, single submitter clinical testing

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