2 Matching Annotations
  1. Oct 2026
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional assessment of IDUA variants of uncertain significance identified by newborn screening
    1
    1. ClingenBaseline 23 Oct 2026
      c.1757C>T

      Case#: Functional assay variant with a clinical significance of being a VUS.

      DiseaseAssertion: MPS-I

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1757C>T (p.S586P)

      Variant1ClinVarID: 571910

      Variant1CAID: CA2802396

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CAID:CA2802396 ClinVarID:571910 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11659309/
  3. www.sciencedirect.com www.sciencedirect.com
    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. ClingenBaseline 21 Oct 2026
      Abnormal

      Case#: No additional case information provided.

      DiseaseAssertion: Not specified

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Abnormal

      CaseUrineGAGs: Normal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1225G>A (p.G409R)

      Variant1ClinVarID: 1084956

      Variant1CAID: CA91169920

      Variant2: c.1757C>T (p.S386F)

      Variant2ClinVarID: 571910

      Variant2CAID: CA2802396

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1084956 CAID:CA91169920 ClinVarID:571910 CAID:CA2802396 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    sciencedirect.com/science/article/pii/S0022347623005073