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  2. www.nature.com www.nature.com
    Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
    1
    1. ClingenBaseline 24 Oct 2026
      Ten patients received concomitant immunomodulation (detailed in Supplementary Table S4); six were genotype-predicted as CRIM-negative, three were CRIM-positive, and one lacked genotype data.

      Patient 6

      Variant1: NM_000152.4(GAA):c.1292_1295dup (p.Gln433Alafs)

      ClinVar: 552165, https://www.ncbi.nlm.nih.gov/clinvar/variation/552165/

      gnomAD: 0.000004293, http://gnomad.broadinstitute.org/variant/17-78082592-C-CTGCA

      Variant2: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

      ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

      gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

      Individual CaseInfo Variant ClinVarID:552165 ClinVarID:4034 inferred_gene_hgnc:26291 inferred_gene_source:ClinVar GAA variant
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    nature.com/articles/gim20182
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
    1
    1. ClingenBaseline 23 Oct 2026
      c.2560C > T(p.Arg854*)

      Case13

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.2560C>T (p.Arg854*)

      ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

      gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

      Variant2: NM_000152.4:c.1292_1295dupTGCA (p.Gln433Alafs*74)

      ClinVar: 552165 https://www.ncbi.nlm.nih.gov/clinvar/variation/552165/

      gnomAD: African 6.992e-5, Overall 4.293e-6 http://gnomad.broadinstitute.org/variant/17-78082592-C-CTGCA

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4034 ClinVarID:552165 inferred_gene_hgnc:26291 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/