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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Prevalence and Natural History of Dominant Optic Atrophy due to OPA1 Mutations
    2
    1. ClingenBaseline 21 Oct 2026
      OA-16c.1635C>Gp.S545R333.71.0-5.020/117020/200 - HM

      Case#: Pedigree OA-16, North of England

      DiseaseAssertion: optic atrophy

      FamilyInfo: 2 additional affected individuals

      CasePresentingHPOs: HP:0000648

      CaseHPOFreeText: Snellen BCVA 20/200 - hand movement, mean age of onset= 3.7yrs

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: Cautious that they may overlap with the individuals from Hudson et al since both are from England, but the author notes that they "checked against the eOPA1 database (http://lbbma.univ-angers.fr/eOPA1/, Accessed 10-12-09) to determine whether they had been described in previous mutational reports."

      GenotypingMethod: The entire coding region of the OPA1 and OPA3 genes was amplified by PCR and sequenced. Variants were confirmed by reverse sequencing.

      Variant: c.1635C>G; p.S545R

      ClinVar: 30461

      CAID: CA10575554

      SupplementalData:

      Variant:1800C>G CAID:CA10575554 CaseInfo Individual Family FamilyInfo PP1 PS4 inferred_gene_hgnc:8140 inferred_gene_source:CAID UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      OA-16c.1635C>Gp.S545R333.71.0-5.020/117020/200 - HM

      Case#: Pedigree OA-16, North of England

      DiseaseAssertion: optic atrophy

      FamilyInfo: 2 additional affected individuals

      CasePresentingHPOs: HP:0000648

      CaseHPOFreeText: Snellen BCVA 20/200 - hand movement, mean age of onset= 3.7yrs

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: Cautious that they may overlap with the individuals from Hudson et al since both are from England, but the author notes that they "checked against the eOPA1 database (http://lbbma.univ-angers.fr/eOPA1/, Accessed 10-12-09) to determine whether they had been described in previous mutational reports."

      GenotypingMethod: The entire coding region of the OPA1 and OPA3 genes was amplified by PCR and sequenced. Variants were confirmed by reverse sequencing.

      Variant: c.1635C>G; p.S545R

      ClinVar: 30461

      CAID: CA10575554

      SupplementalData:

      Variant:1800C>G CAID:CA10575554 CaseInfo Individual Family FamilyInfo PP1 PS4 inferred_gene_hgnc:8140 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC4040407/