3 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 25 Oct 2026
      c.298A>G

      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.298A>G (p.R100G)

      Variant1ClinVarID: 2058952

      Variant1CAID: CA2801159

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CAID:CA2801159 ClinVarID:2058952 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC11659309/
  3. www.sciencedirect.com www.sciencedirect.com
    Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
    1
    1. ClingenBaseline 25 Oct 2026
      1

      Case#: Infant 1

      DiseaseAssertion: N/A

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 5.1 nmol/h/mg; normal range, 15.1-50.9 nmol/h/mg

      CaseUrineGAGs: 22.6 mg/mmol creatinine; normal ranges, 0-53 mg/mmol creatinine

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.298A>G (p.R100G)

      Variant1ClinVarID: 2058952

      Variant1CAID: CA2801159

      Variant2: c.300-20C>T

      Variant2ClinVarID: 1415135

      Variant2CAID: CA2801857

      AdditionalVariants: c.1345C>A (p.H449N)

      ParentalGenotype: c.298A>G (maternal); c.300-20C>T (paternal); c.1345C>A (paternal)

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:2058952 CAID:CA2801159 ClinVarID:1415135 CAID:CA2801857 ClinVarID:350230 CAID:CA2802233 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347617308983
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I
    1
    1. ClingenBaseline 24 Oct 2026
      31

      Case#: Patient 31 (Table 3)

      DiseaseAssertion: Severe naïve MPS 1

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2 nmol/h/mg per DBS (dried blood spots) determined during NBS. 7.57 relative protein abundance, expressed as the ratio between IDUA/GAA (amol / fmol) in buccal swabs.

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: N/A

      Variant1: c.1898C>A (p.S633Ter)

      Variant1ClinVarID: 1068474

      Variant1CAID: CA355966009

      Variant2: c.298A>G (p.R100G)

      Variant2ClinVarID: 2058952

      Variant2CAID: CA2801159

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1068474 CAID:CA355966009 ClinVarID:2058952 CAID:CA2801159 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC10387444/