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  2. eje.bioscientifica.com eje.bioscientifica.com
    Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    1
    1. ClingenBaseline 05 Nov 2026
      21F/35ASUnilateral PCCVHL3c.548C>G (Novel)p.(Ser183Trp)Substitution (missense)Disease causing

      PatientID: 21

      KindredID: 21

      Case: F, 35Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: None - apparently sporadic

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: unilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S183W (c.548C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 219158 https://www.ncbi.nlm.nih.gov/clinvar/variation/219158/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S183W (c.548C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 cDNAposition:548 AminoAcidChange:SERtoTRP MutationType:missense_variant;transversion CivicName:S183W(c.548C>G) ClinVarID:219158 ClinVarID:Yes PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline NoFamilyInfo ProteinPosition:183 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    eje.bioscientifica.com/view/journals/eje/175/4/311.xml
  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 27 Oct 2026

      Medical records of 31 Asian Indian genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. A 55 year old female (Patient 18) presented with sympathetic paraganglioma (55Y). Genetic testing (PCR and Sanger sequencing) confirmed a missense mutation at c.584C>G of the VHL gene. She has a negative family history.

      EvidenceStatement ClinVarID:219158 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29124493/