PatientID: N/A

KindredID: 1

Case: F, 42Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Her mother and children have VHL.

CasePresentingHPOs: HP:0009713, HP:0010797, HP:0002666, HP:0030405, HP:0100684 (spinal hemangioblastoma, hemangioblastoma, pheochromocytoma, pancreatic endocrine tumour, salivary gland neoplasm)

CaseHPOFreeText: Patient presented with right sided neck mass that had been causing discomfort for two months. MRI showed a 9-mm rim-enhancing lesion in the right parotid that prompted consideration of malignancy. A parotidectomy revealed a well-demarcated 0.7-cm cyst filled with thick, white to translucent, mucoid material. Histologic examination demonstrated that the cystic tumor with an invasive but well-circumscribed border. The majority of the neoplasm was cystic, and there was no necrosis, appreciable mitotic activity, or cellular pleomorphism or anaplasia, indicative of a low-grade mucoepidermoid carcinoma. She previously had surgical excision of hemangioblastomas of the brain and spinal cord as well as resection of a pheochromocytoma of the left adrenal gland. Additionally, she also had been followed for 2 small pancreatic nodules that were subsequently found to be neuroendocrine tumors. The patient ended up requiring a partial pancreatectomy for a pancreatic neuroendocrine tumour related to her VHL disease.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.T105M(c.314C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: Only the protein change was provided in the paper.

ClinVarID: 1057750 https://www.ncbi.nlm.nih.gov/clinvar/variation/1057750/?new_evidence=false

CAID: N/A

gnomAD: 0.000004545 https://gnomad.broadinstitute.org/variant/3-10183845-C-T

VariantEvidence: N/A

MutationType:missense_variant;transition

CivicName:T105M(c.314C>T)

MultipleGeneVariants: Germline, VHL, c.500G>A (p.Arg167Gln)