a L198V missense mutation in a 32-year-old female affected by a right adrenal compound and mixed tumour constituted by an epinephrine secreting Pheo, a ganglioneuroma and an adrenocortical adenoma
PatientID: 1
KindredID: 1
Case: F, 32Y0M, Ethnicity Unknown
DiseaseAssertion: assumed VHL
FamilyInfo: No family history: Father and brother were tested and no VHL mutation was found; Her mother died at the age of 51 years of a lung carcinoma, prior to any genetic testing. Therefore impossible to confirm de novo.
CasePresentingHPOs: HP:0002666; HP:0008256 (pheochromocytoma; adrenocortical adenoma)
CaseHPOFreeText: presented a right adrenal mass at sonography performed for gallbladder’s stones. An abdominal computed tomography (CT) confirmed the presence of a solid hypodense lesion of the right adrenal gland, 3 × 2·5 cm in size
CaseNotHPOs: N/A
CaseNotHPOFreeText: Ophthalmoscopy as well as brain, thoracic and abdominal Nuclear Magnetic Resonance (NMR) did not show any of the typically VHL associated lesions (retinal or CNS angiomas; endolymphatic sac tumours; pancreatic or renal cysts; renal carcinoma; cystoadenoma of the broad ligament).
CasePreviousTesting: RET/ SDHB/ SDHC/ SDHD
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: unknown - see CaseProblemVariantFreeText
LegacyVariant: N/A
CaseProblemVariantFreeText: Paper states: p.L198V (c.594C>G). The base at cDNA position 561 is actually a ‘G’. Could be c.592C>G as this gives a p.L198V change, however cannot justify this assumption with the evidence given, and authors were not able to confirm.
ClinVarID: N/A
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant
CivicName: None
MultipleGeneVariants: N/A