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  1. Last 7 days
  2. www.tandfonline.com www.tandfonline.com
    Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease
    1
    1. ClingenBaseline 03 Nov 2026
      c.593T>C, p.L198P

      PatientID: II-1

      KindredID: Family C

      Case: M, 45Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Only this one member was studied. This mutation was said to be a de novo, although no more inforation provided. However the asymptomatic father of patient was also a carrier of the same polymorphism (c.74C>T, p.P25L).

      CasePresentingHPOs: HP:0006748; HP:0030405; HP:0009711 (Adrenal pheochromocytoma; pancreatic neuroendocrine tumour; retinal capillary hemangioma)

      CaseHPOFreeText: At the age of 15, patient had pancreatic tumor (malignant pancreatic neuroendocrine tumor). At the age of 16, MRI revealed suprarenal tumor masses bilaterally (pheochromocytomas in the adrenal glands), as well as optic nerve hemangioblastomas of the right eye. At the age of 25, he shows no signs of metastases or new VHL-associated tumors, but since the age of 23, he has been suffering from HLAB27-positive ankylosing spondylitis.

      CaseNotHPOs: HP:0005584; HP:0010797 (renal cell carcinoma; hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L198P (c.593T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223235 https://www.ncbi.nlm.nih.gov/clinvar/variation/223235/

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L198P (c.593T>C) AND P25L (c.74C>T)

      MultipleGeneVariants: Germline, VHL, c.74C>T (p.Pro25Leu)

      InheritancePattern:DeNovoAssertion DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:pancreaticendocrinetumor:15 AgeOfPresentation:adrenalpheochromocytoma:16 AgeOfPresentation:retinalcapillaryhemangioma:16 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:593 MutationType:missense_variant;transition ProteinPosition:198 AminoAcidChange:LEUtoPRO CivicName:L198P(c.593T>C) ClinVarID:223235 ClinVarID:Yes MultipleVHLVariants FamilyPedigree ExperimentalAssay CivicName:L198P(c.593T>C)ANDP25L(c.74C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    tandfonline.com/doi/full/10.3109/13816810.2014.886265
  3. Oct 2026
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype phenotype correlation in Asian Indian von Hippel–Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma
    1
    1. ClingenBaseline 25 Oct 2026

      PatientID: 14

      KindredID: 5

      Case: Sex Unknown, 40Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: 2 other members of this family presented with the same variant. Patient 13 (Gen 2) presented with bilateral pheochromocytoma. Patient 12 (Gen 2) presented with bilateral pheochromocytoma and sympathetic paraganglioma.

      CohortInfo: This retrospective study was conducted at Department of Endocrinology of a tertiary care health centre in Western India. Patients presented to our institute between 2008 and 2016 were included in the study. During the study period a total of 33 patients were suspected to have VHL syndrome based on clinical features among whom 31 patients were found to have mutation in VHL gene. All patients are of Asian Indian descent.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Bilateral pheochromocytoma and sympathetic paraganglioma.

      CaseNotHPOs: HP:0009711; HP:0010797; HP:0001737; HP:0005584; HP:0030405; HP:0002668 (Retinal capillary hemangioma, Hemangioblastoma, Pancreatic cysts, Renal cell carcinoma, Pancreatic endocrine tumor, Paraganglioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L198P (c.593T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223235, https://www.ncbi.nlm.nih.gov/clinvar/variation/223235/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L198P (c.593T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:40 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:593 ProteinPosition:198 AminoAcidChange:LEUtoPRO ClinVarID:223235 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L198P(c.593T>C) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29124493/