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  2. jamanetwork-com.myaccess.library.utoronto.ca jamanetwork-com.myaccess.library.utoronto.ca
    Consequences of Direct Genetic Testing for Germline Mutations in the Clinical Management of Families With Multiple Endocrine Neoplasia, Type II
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    1. ClingenBaseline 24 Oct 2026
      The remaining two families without RET mutations were subsequently shown to have a mutation within the VHL gene.

      GroupID: None

      DiseaseAssertion: VHL

      GroupSize: 9

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      GroupInfo: Nine individuals from 2 different families initially diagnosed with MEN-IIA were investigated. All were found to have the same (c.562C>G) missense mutation in the VHL gene.

      GroupPresentingHPOs: HP:0002666; HP:0006737; HP:0002865; HP:0011781 (pheochromocytoma, extra adrenal pheochromocytoma, medullary thyroid carcinoma, thyroid C cell hyperplasia)

      GroupHPOFreeText: All 9 patients had pheochromocytoma, 2 of the 9 patients (unspecified) also had thyroid C-cell tumors, 1 (unspecified) had medullary thyroid carcinoma, and 1 (unspecified) had C-cell hyperplasia. 3 of the 9 patients (unspecified) also developed extra-adrenal pheochromocytoma.

      GroupNotHPOs: HP:0000843; HP:0009711; HP:0010797; HP:0000107; HP:0001737 (Hyperparathyroidism, retinal capillary hemangioma, hemangioblastoma, renal cysts, pancreatic cysts.

      GroupNotHPOFreeText: None of the patients had any clinical signs of renal cancer. Two patients (unspecified) were screened for retinal, CNS, and abdominal lesions; neither had occult VHL lesions.

      GroupPreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L188V (c.562C>G)

      LegacyVariant: c.775C>G

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2225, https://www.ncbi.nlm.nih.gov/clinvar/variation/2225/

      CAID: CA020488

      gnomAD: 0.00002121, https://gnomad.broadinstitute.org/variant/3-10191569-C-G?dataset=gnomad_r2_1

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L188V (c.562C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:extraadrenalpheochromocytoma DiseaseEntity:medullarythyroidcarcinoma DiseaseEntity:thyroidccellhyperplasia Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:562 ProteinPosition:188 AminoAcidChange:LEUtoVAL ClinVarID:2225 CAID:CA020488 MutationType:missense_variant;transversion CivicName:L188V(c.562C>G) Familial ClinVarID:Yes FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    jamanetwork-com.myaccess.library.utoronto.ca/journals/jama/fullarticle/389780