c.497T>C
Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this missense varaint in the VHL gene. The patient was 27Y at the last follow-up and presented with: pancreatic neuroendocrine tumour and pheochromocytoma. Family history was not described. This cohort was published later in PMID 31087189.
14 c.497T>C p.Val166Ala p.V166A Bilateral Pheo
PatientID: None
KindredID: 14
Case: 15Y0M, F, Ethnicity Unknown
DiseaseAssertion: pheochromocytoma
FamilyInfo: The patient has no family history of VHL disease. Genetic testing reveals no mutation in patient's parents indicating that the mutation in patient is sporadic. This was further said to have occurred de novo.
CasePresentingHPOs: HP:0002666 (pheochromocytoma)
CaseHPOFreeText: bilateral pheochromocytoma diagnosed at age 11 years. She was said to have single-organ involvement and did not fulfill diagnostic criteria of VHL.
CaseNotHPOs: HP:0009711; HP:0005584; HP:0010797; HP:0000107; HP:0001737 (retinal capillary hemangioma, renal cell carcinoma, hemangioblastoma, renal cyst, pancreatic cysts)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: Previously reported, HGMD (Human Gene Mutation Database: http://uwcmml1s.uwcm.ac.uk/uwcm/mg/search/120488.html)
SupplementalData: N/A
Variant: p.V166A (c.497T>C)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: 43605 https://www.ncbi.nlm.nih.gov/clinvar/variation/43605/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: V166A (c.497T>C)
MultipleGeneVariants: N/A