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  2. ashpublications.org ashpublications.org
    Mutations in the VHL gene in sporadic apparently congenital polycythemia
    2
    1. ClingenBaseline 21 Oct 2026
      2/M 10 Yes 63 271 Hypersensitive NI 376G>T/wt 

      PatientID: 2

      KindredID: 1

      Case: M, 10Y0M, Ukrainian

      DiseaseAssertion: Asymptomatic

      FamilyInfo: His sister (patient 1) also had polycythemia and was heterozygeous for the mutation. Mutation inherited from father. The father was not polycythemic, but his BFU-Es were hypersensitive to Epo.

      CasePresentingHPOs: HP:0001901 (polycythemia)

      CaseHPOFreeText: Patient had a hematocrit of 63%, erythropoietin level of 271 mIU/mL, and had hypersensitivity of erythroid progenitors to Epo.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: No tumor masses were detected by repeated CT scans of his abdomen or chest and by magnetic resonance imaging (MRI) of the head.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D126Y(c.376G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2230 https://www.ncbi.nlm.nih.gov/clinvar/variation/2230/

      CAID: CA020319 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.376G%3ET

      gnomAD: N/A

      VariantEvidence: Patient was heterozygous for the mutation.

      MutationType: missense_variant;transversion

      CivicName: D126Y(c.376G>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:polycythemia Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:376 ProteinPosition:126 AminoAcidChange:ASPtoTYR CivicName:D126Y(c.376G>T) ClinVarID:2230 CAID:CA020319 MutationType:missense_variant;transversion familypedigree Ethnicity:Ukrainian InheritancePattern:AutosomalRecessive ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      2/M 10 Yes 63 271 Hypersensitive NI 376G>T/wt 

      PatientID: 2

      KindredID: 1

      Case: M, 10Y0M, Ukrainian

      DiseaseAssertion: Asymptomatic

      FamilyInfo: His sister (patient 1) also had polycythemia and was heterozygeous for the mutation. Mutation inherited from father. The father was not polycythemic, but his BFU-Es were hypersensitive to Epo.

      CasePresentingHPOs: HP:0001901 (polycythemia)

      CaseHPOFreeText: Patient had a hematocrit of 63%, erythropoietin level of 271 mIU/mL, and had hypersensitivity of erythroid progenitors to Epo.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: No tumor masses were detected by repeated CT scans of his abdomen or chest and by magnetic resonance imaging (MRI) of the head.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D126Y(c.376G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2230 https://www.ncbi.nlm.nih.gov/clinvar/variation/2230/

      CAID: CA020319 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.376G%3ET

      gnomAD: N/A

      VariantEvidence: Patient was heterozygous for the mutation.

      MutationType: missense_variant;transversion

      CivicName: D126Y(c.376G>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:polycythemia Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:376 ProteinPosition:126 AminoAcidChange:ASPtoTYR CivicName:D126Y(c.376G>T) ClinVarID:2230 CAID:CA020319 MutationType:missense_variant;transversion familypedigree Ethnicity:Ukrainian InheritancePattern:AutosomalRecessive ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ashpublications.org/blood/article/101/4/1591/105884/Mutations-in-the-VHL-gene-in-sporadic-apparently