Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Republic of Korea) between 2003 and 2012 were respectively reviewed. Peripheral blood leukocytes were isolated and directly sequenced. One patient presented with the c.488T>C p.Leu162Pro germline variant of the VHL gene. Patient 41, 39Y male, presented with multiple and/or bilateral renal cell carcinoma and CNS hemangioblastomas as well as a family history negative for VHL disease. Their phenotypes were revised from a previous report (PMID 19270817). He was diagnosed with VHL Type 1.

PatientID: 12

KindredID: 12

Case: M, 48Y0M, Korean

DiseaseAssertion: VHL

FamilyInfo: None

CasePresentingHPOs: HP:0010797; HP:0005584 (hemangioblastoma, renal cell carcinoma)

CaseHPOFreeText: Bilateral involvements of RCC. 'Other' phenotypes found in patient. These are noted in the paper to include: pancreatic neuroendocrine tumors (PNETs), renal and pancreatic cysts and central nervous system tumors, although it is not clearly stated that patient 1 has all. (See Table 1).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L163P (c.488T>C)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVar: 2231 https://www.ncbi.nlm.nih.gov/clinvar/variation/2231/

CAID: CA020423 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.488T%3EC

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: L163P (c.488T>C)

MultipleGeneVariants: N/A