The single patient with the VHL missense mutation (case 1) had his first tumor diagnosed at age 8. He presented initially with a left adrenal pheochromocytoma, which was resected. Recurrent disease was diagnosed at age 26, at which time testing of the VHL gene was carried out.
PatientID: 1
KindredID: 1
Case: M, 26Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)
CaseHPOFreeText: First tumor diagnosed at age 8. He presented initially with a left adrenal pheochromocytoma, which was resected. Recurrent disease was diagnosed at age 26, at which time testing of the VHL gene was carried out.
CaseNotHPOs: HP:0100006; HP:0000478; HP:0009726 (Neoplasm of the central nervous system, Abnormality of the eye, Renal neoplasm)
CaseNotHPOFreeText: Opthalmological examinations and imaging studies for lesions in the central nervous system, kidneys and organ systems failed to reveal any evidence of VHL syndrome.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Table 1
Variant: p.V84M (c.250G>A)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 428813, https://www.ncbi.nlm.nih.gov/clinvar/variation/428813/
CAID: N/A
gnomAD: 0.000004376, https://gnomad.broadinstitute.org/variant/3-10183781-G-A
VariantEvidence: Mutation was already established. Genotyping information not available.
MutationType: missense_variant;transition
CivicName: V84M (c.250G>A)
MultipleGeneVariants: N/A