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    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
    2
    1. ClingenBaseline 05 Nov 2026
      F2, II.1c.598C>T/c.340+770T>CVHL p.Arg200Trp/X1 p.Ser179Pro?1957/21 yM19.96722.2Erythrocytosis—

      PatientID: II.1

      KindredID: 2

      Case: M, 21Y0M, Ethnicity Unknown

      DiseaseAssertion: Polycythemia

      FamilyInfo: Positive family history. Biologic material from parents were unavailable but Chuvash core haplotype analysis demonstrated that all patients were compound heterozygous, with 1 mutation being inherited from each parent. See Figure 2B for family pedigree.

      CohortInfo: Patients with Chuvash polycythemia for whom VHL R200W had been found in a heterozygous state

      CasePresentingHPOs: HP:0001901 (Polycythemia)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+770T>C

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 816685 https://www.ncbi.nlm.nih.gov/clinvar/variation/816685/

      CAID: N/A

      gnomAD: 0.00003186 https://gnomad.broadinstitute.org/variant/3-10184641-T-C

      VariantEvidence: N/A

      MutationType: intron_variant

      CivicName: c.340+770T>C and R200W (c.598C>T)

      MultipleGeneVariants: Germline, VHL, c.598C>T (p.Arg200Trp)

      InheritancePattern:AutosomalRecessive DiseaseEntity:Polycythemia AgeOfPresentation:Polycythemia:21 Familial MultipleVHLVariants cDNAposition:340 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:816685 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 FamilyPedigree MutationType:intron_variant ExperimentalAssay CivicName:c.340+770T>CandR200W(c.598C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 05 Nov 2026
      F3, II.2c.598C>T/c.340+770T>CVHL p.Arg200Trp/X1 p.Ser179Pro?2005/6 moM14.645Erythrocytosis—

      PatientID: II.2

      KindredID: 3

      Case: M, 0Y6M, Ethnicity Unknown

      DiseaseAssertion: Polycythemia

      FamilyInfo: The patient had an affected brother (II.1) with the same mutation and polycythemia. Biologic material from parents were unavailable but Chuvash core haplotype analysis demonstrated that all patients were compound heterozygous, with 1 mutation being inherited from each parent. See Figure 2B for family pedigree.

      CohortInfo: Patients with Chuvash polycythemia for whom VHL R200W had been found in a heterozygous state.

      CasePresentingHPOs: HP:0001901 (Polycythemia)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R200W (c.598C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2232 https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/

      CAID: N/A

      gnomAD: 0.0002016 https://gnomad.broadinstitute.org/variant/3-10191605-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: c.340+770T>C and R200W (c.598C>T)

      MultipleGeneVariants: Germline, VHL, c.340+770T>C

      Mutation:Germline AssumedRefSeq:NM_000551.3 AgeOfPresentation:Polycythemia:0 DiseaseEntity:Polycythemia Familial FamilyPedigree CivicName:R200W(c.598C>T) cDNAposition:598 ProteinPosition:200 AminoAcidChange:ARGtoTRP ClinVarID:2232 ClinVarID:Yes MutationType:missense_variant;transition MultipleVHLVariants InheritancePattern:AutosomalRecessive ExperimentalAssay CivicName:c.340+770T>CandR200W(c.598C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206