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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease
    1
    1. ClingenBaseline 07 Nov 2026
      Affected members of the third family with a VHL type 1 disease carried a c.475T>C/p.Trp88Arg exchange.

      PatientID: CII2

      KindredID: C

      Case: M, 63Y0M, Serbian

      DiseaseAssertion: VHL

      FamilyInfo: Families were selected based on their clinical data and family history. Patient’s son (CIII1) retinal capillary hemangioma, CNS hemangioblastoma and renal cell carcinoma, but was not genetically tested. The patient’s brother also had retinal capillary hemangioma, CNS hemangioblastoma and renal cell carcinoma, but was not genetically tested. Patient’s grandson (CIV2) was diagnosed with retinal hemangioblastoma at 12Y0M. Then, multiple pancreatic and kidney cysts were detected at 29Y0M and left kidney cancer was found at age 35Y0M. He possessed the same mutation as the patient. The grandson’s children aged 12Y0M (CV2) and 15Y0M (CV1) are carriers of the same genetic mutation, but are both currently asymptomatic. See pedigree in figure 1.

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0005584 (retinal capillary hemangioma; hemangioblastoma; renal cell carcinoma)

      CaseHPOFreeText: The patient had the first symptoms of retinal hemangioblastoma at 60Y0M and deceased due to renal cell carcinoma in both kidneys at 63Y0M.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>A)

      LegacyVariant: p.W88R (c.475T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456577, https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense variant; transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:60 CivicName:W88R(c.262T>A) cDNAPosition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG ClinVarID:Yes ClinVarID:456577 FamilyPedigree Familial AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/17688370/