ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1395del (p.Gly466fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194417 SCV001363954 likely pathogenic Mucopolysaccharidosis type 1 2019-02-05 criteria provided, single submitter clinical testing Variant summary: IDUA c.1395delC (p.Gly466AlafsX59) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.1799delC (p.Ser600X), c.1861C>T (p.Arg621X)). The variant was absent in 30688 control chromosomes (gnomAD). c.1395delC has been reported in the literature in an individual affected with Mucopolysaccharidosis Type 1 (Chuang 2018). The authors of this study also performed leukocyte IDUA enzyme assays in this patient, and found a markedly decreased residual activity (Chuang 2018). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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