ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)

gnomAD frequency: 0.00043  dbSNP: rs150763745
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247276 SCV001420688 uncertain significance Mucopolysaccharidosis type 1 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 165 of the IDUA protein (p.Gly165Asp). This variant is present in population databases (rs150763745, gnomAD 0.1%). 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: 971486). 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 tolerated. 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 RCV002480846 SCV002779883 uncertain significance Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2021-07-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987813 SCV004804390 uncertain significance not specified 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001247276 SCV002075292 uncertain significance Mucopolysaccharidosis type 1 2020-04-22 no assertion criteria provided clinical testing

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