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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A
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    1. ClingenBaseline 12 Nov 2026

      GroupID: 1190

      DiseaseAssertion: VHL

      GroupSize: 19 GroupNumberMales: N/A GroupNumberFemales: N/A GroupEthnicity: German GroupAgeRange: N/A

      GroupInfo: Pennsylvanian pheochromocytoma family of German origin classified as a VHL Type 2A family according to the authors criteria (i.e. presenting with pheochromocytoma and without RCC or pancreatic cysts).

      GroupPresentingHPOs: HP:0002666; HP:0009711; HP:0010797 (Pheochromocytoma, Retinal capillary hemangioma, Hemangioblastoma)

      GroupHPOFreeText: 19 members affected with pheochromocytoma, 4 with retinal angioma, 1 with CNS hemangioblastoma.

      GroupNotHPOs: HP:0005584; HP:0001737 (Renal cell carcinoma, Pancreatic cysts)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T112H (c.334T>C)

      LegacyVariant: T547C (Y111H)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2222, https://www.ncbi.nlm.nih.gov/clinvar/variation/2222/

      CAID: N/A

      gnomAD: 0.00001343, https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: Since this family was of German origin and was classified as a VHL Type 2A family, the authors chose to test 5 affected individuals (4612, 4613, 4796, 4799, 4801) and 7 unaffected individuals mutations at nucleotide 292. A novel migration fragment was identified in all 5 affected individuals in exon 1. None of the unaffected individuals showed this variant. DNA from patients 4612 and 4613 was amplified by PCR and subcloned resulting in the detection of the p.T112H (c.334T>C) variant. Sequencing in both directions confirmed this result. The other 3 affected individuals were not sequenced. Authors declare variant as “T547C (Y111H)” (assumed to follow legacy nomenclature) which was mapped to p.T112H (c.334T>C).

      MutationType: missense_variant;transition

      CivicName: T112H (c.334T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:German DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Mutation:Germline cDNAposition:334 ProteinPosition:112 AminoAcidChange:TYRtoHIS ClinVarID:2222 ClinVarID:Yes MutationType:missense_variant;transition CivicName:T112H(c.334T>C) Familial FamilyCohort AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8863170/