PatientID: 1 (case)

KindredID: 1

Case: F, 70Y0M, Ethnicity Unknown

DiseaseAssertion: NF1

FamilyInfo: Her son bearing the clinical characteristics of NF 1 died at the age of 17Y from an undefined malignancy. The patient has another son, 40 years old, who is clinically well.

CasePresentingHPOs: HP:0002666; HP:0000843; HP:0002865 (pheochromocytoma; hyperparathyroidism; medullary thyroid cancer)

CaseHPOFreeText: diagnosed with an isolated pheochromocytoma of the right adrenal gland underwent adrenalectomy) at 20Y. Further diagnosed with hyperparathyroidism and medullary thyroid cancer, having the full spectrum of the clinical picture of the MEN2A syndrome. Patient was diagnosed with NF1 at 20Y with multiple café–au-lait spots on her back and lower limbs were identified. She also had multiple dermal neurofibromas on the abdomen and lower limbs. Her medical history included diabetes mellitus type II, as well as hypertension.

CaseNotHPOs: N/A

CaseNotHPOFreeText: MRI of the brain was performed at 20Y, which did not reveal any brain neurofibromas.

CasePreviousTesting: NF1, RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P192R (c.575C>G)

LegacyVariant: p.P192R (c.788C>G)

CaseProblemVariantFreeText: N/A

ClinVarID: 825946 https://www.ncbi.nlm.nih.gov/clinvar/variation/825946/

CAID: N/A

gnomAD: N/A

VariantEvidence: According to in silico analysis and clinical history of the patient, VHL was more likely a rare polymorphic variant of the population of patient’s origin, rather than a disease causing mutation.

MutationType: missense_variant;transversion

CivicName: P192R (c.575C>G)

MultipleGeneVariants: Germline, NF1, c.3516_3517delTC, p.D1172Dfs*21