5 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening
    3
    1. ClingenBaseline 24 Oct 2026
      630.175 (2.1)7.7DS 7.4heterozygous pathogenic: c.1205G>A; p.W402*Normal examinationHS 5.8heterozygous VUS: c.1417A>T; p.T473SCarrierheterozygous PD: c.246C>G; p.H82Q

      Case#:Patient Sample unique ID 63, Infant screened positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      DiseaseAssertion:Carrier

      FamilyInfo:None

      CasePresentingHPOs:None

      CaseHPOFreeText:None

      CaseNotHPOs:None

      CaseNotHPOFreeText: Normal examination at follow up after screening positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      CaseEnzymeAssay: IDUA activity 0.175 (2.1) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and 7.7 pmol/punch/h Confirmatory IDUA enzyme measured at follow-up appointment

      CaseUrineGAGs: DS 7.4 g/mol creatinine and HS 5.8 g/mol creatinine (Normal)

      CaseERT:No

      CaseBMT:No

      Variant1:heterozygous pathogenic: c.1205G>A; p.W402** (Normal examination)

      Variant1ClinVarID:11908

      Variant1CAID:CA220498

      Variant2:heterozygous VUS: c.1417A>T; p.T473S (Carrier)

      Variant2ClinVarID:2450304

      Variant2CAID:CA346704036

      AdditionalVariants:heterozygous PD: c.246C>G; p.H82Q (ClinVarID: 92637, CAID:CA220506)

      ParentalGenotype:N/A

      PreviouslyPublished:N/A

      ClinVarID:11908 CAID:CA220498 ClinVarID:2450304 CAID:CA346704036 ClinVarID:92637 CAID:CA220506 DiseaseEntity:Carrier inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 23 Oct 2026
      290.623 (7.5)11.1DS 3.1heterozygous VUS: c.787A>T; p.R263WNormal examinationHS 2.4heterozygous PD: c.246C>G; p.H82Q

      Case#:Patient Sample unique ID 29, Infant screened positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      DiseaseAssertion:None

      FamilyInfo:None

      CasePresentingHPOs:None

      CaseHPOFreeText:None

      CaseNotHPOs:None

      CaseNotHPOFreeText: Normal examination at follow up after screening positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      CaseEnzymeAssay: IDUA activity 0.623 (7.5) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and 11.1 pmol/punch/h Confirmatory IDUA enzyme

      CaseUrineGAGs: DS 3.1 g/mol creatinine and HS 2.4 g/mol creatinine (Normal)

      CaseERT:No

      CaseBMT:No

      Variant1:heterozygous VUS: c.787A>T; p.R263W (Normal examination)

      Variant1ClinVarID:2664494

      Variant1CAID:CA411263334

      Variant2: heterozygous PD: c.246C>G; p.H82Q

      Variant2ClinVarID:92637

      Variant2CAID:CA220506

      AdditionalVariants:None

      ParentalGenotype:None provided

      PreviouslyPublished:N/A

      ClinVarID:2664494 CAID:CA411263334 ClinVarID:92637 CAID:CA220506 DiseaseEntity:Unknown inferred_gene_hgnc:3029 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 21 Oct 2026
      370.629 (7.5)13.9DS 3.4heterozygous PD: c.235G>A; p.A79TNormal examinationHS 2.7heterozygous PD: c.246C>G; p.H82Q

      Case#:Patient Sample unique ID 37, Infant screened positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      DiseaseAssertion:None

      FamilyInfo:None

      CasePresentingHPOs:None

      CaseHPOFreeText:None

      CaseNotHPOs:None

      CaseNotHPOFreeText: Normal examination at follow up after screening positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      CaseEnzymeAssay: IDUA activity 0.629 (13.9) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and 13.9 pmol/punch/h Confirmatory IDUA enzyme

      CaseUrineGAGs: DS 3.4 g/mol creatinine and HS 2.7 g/mol creatinine (Normal)

      CaseERT:No

      CaseBMT:No

      Variant1:homozygous PD: c.235G>A; p.A79T (Normal examination)

      Variant1ClinVarID:41682

      Variant1CAID: CA000358

      Variant2:heterozygous PD: c.246C>G; p.H82Q

      Variant2ClinVarID:92637

      Variant2CAID:CA220506

      AdditionalVariants: None

      ParentalGenotype:None provided

      PreviouslyPublished:N/A

      ClinVarID:41682 CAID:CA000358 ClinVarID:92637 CAID:CA220506 DiseaseEntity:Unknown inferred_gene_hgnc:9588 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347619305098
  3. 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 24 Oct 2026
      c.246C>G

      Case#: Functional assay variant with a clinical significance of clinically benign.

      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.246C>G (p.H82Q)

      Variant1ClinVarID: 92637

      Variant1CAID: CA220506

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CAID:CA220506 ClinVarID:92637 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC11659309/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of infants at risk for developing Fabry, Pompe or Mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry
    1
    1. ClingenBaseline 23 Oct 2026
      Three samples were confirmed to have nucleotide changes consistent with MPS-I (Table II).

      Case#:Table II, MPS-I, Enzyme activity=1.15

      DiseaseAssertion: MPS1

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: 1.15 umol/hr/L blood (newborn blood spot)

      CaseUrineGAGs:

      CaseERT:

      CaseBMT:

      Variant1:c.246C>G (p.His82Gln)

      Variant1ClinVarID: 92637

      Variant1CAID: CA220506

      Variant2: c.246C>G (p.His82Gln)

      Variant2ClinVarID: 92637

      Variant2CAID: CA220506

      AdditionalVariants:

      ParentalGenotype:

      PreviouslyPublished

      Gene:IDUA HGNC:5391 PMCID:PMC3725184 InheritancePattern:AutosomalRecessive DiseaseEntity:MPS1 Mutation:Germline Zygosity:Homozygous ClinVarID: 92637 inferred_gene_hgnc:5391 inferred_gene_source:hgnc_tag IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3725184/