2 Matching Annotations
  1. Last 7 days
  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 23 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 1

      Variant1: NM_000152.3:c.1654del

      CAID: CA658795262, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795262

      gnomAD: n/a

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

      ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/#clinical-assertions

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

      Individual CaseInfo Variant CA658795262 ClinVarID:4034 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    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 22 Oct 2026
      c.2560C > T(p.Arg854*)

      Case12

      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.1654delC (p.Leu552Serfs*26)

      CAID: CA658795262 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1654delC

      gnomAD: Not in gnomAD

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4034 CA658795262 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/