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    Germ-Line Mutations in Nonsyndromic Pheochromocytoma | NEJM
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    1. ClingenBaseline 30 Oct 2026

      PatientID: N/A

      KindredID: 2

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Nonsyndromic pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S68W (c.203C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.S68W (c.416C>G)

      ClinVarID: N/A

      CAID: CA351748895 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.203C%3EG

      gnomAD: N/A

      VariantEvidence: PMID: 15611064 shows that S68W nearly completely abolishes the HIF1a hydroxylation dependent binding (Figure 6B) which disrupts HIF-2α degredation in 786-O (renal cell carcinoma) cells (Figure 6 D).

      MutationType: missense_variant; transversion

      CivicName: S68W (c.203C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:S68W(c.203C>G) cDNAposition:203 ProteinPosition:68 AminoAcidChange:SERtoTRP MutationType:missense_variant;transversion CAID:CA351748895 ClinVarID:N/A NoFamilyInfo PreviousTesting:RET/SDHB/SDHD ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    nejm.org/doi/10.1056/NEJMoa020152