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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study
    1
    1. ClingenBaseline 31 Oct 2026
      89VHLE2c.460C>Tp.P154SPP16595991F390Yes39R- PGL6.8No

      PatientID: 89

      KindredID: 89

      Case: F, 39Y0M, Chinese (East Asian)

      DiseaseAssertion: Paraganglioma

      FamilyInfo: No family history.

      CasePresentingHPOs: Paraganglioma (HP:0002668)

      CaseHPOFreeText: retroperitoneal paraganglioma 6.8cm in size; metastatic. Age of diagnosis at 39Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P154S (c.460C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 486714 https://www.ncbi.nlm.nih.gov/clinvar/variation/486714

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Described as a pathogenic variant, according to the ACMG guidelines at the time of publication.

      MutationType: missense_variant;transition

      CivicName: P154S (c.460C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 Ethnicity:Chinese Ethnicity:EastAsian DiseaseEntity:paraganglioma AgeOfPresentation:paraganglioma:39 ProteinPosition:154 cDNAposition:460 MutationType:missense_variant;transition CivicName:P154S(c.460C>T) AminoAcidChange:PROtoSER ClinVarID:486714 ClinVarID:Yes NonFamilial PreviousTesting:MAX/RET/NF1/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7761866/