37 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 1 patient (Family ID8) were found with 2 germline missense mutations in the VHL gene: (L118P; c.353T>C) and (R107G; c.319C>G). Patient 1 was diagnosed at 15Y old and had 6 CNS hemangioblastomas at 15Y, and 2 retinal hemangioblastomas at 15Y. The patient was 35Y by the end of the study.

PatientID: 46

KindredID: 46

Case: Sex Unknown, Age Unknown, Japanese

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0009711; HP:0002666; HP:0010797 (Retinal capillary hemangioma, Pheochromocytoma, Hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 10761708

SupplementalData: N/A

Variant: p.L118P (c.353T>C)

LegacyVariant: p.L189P (c.566T>C)

CaseProblemVariantFreeText: N/A

ClinVarID: 428807, https://www.ncbi.nlm.nih.gov/clinvar/variation/428807/

CAID: N/A

gnomAD: N/A

VariantEvidence: Nucleotide deletion (i.e. 566T>C) coincides with legacy variant nomenclature (i.e. AF010238.1) and was mapped to c.353T>C (NM_000551.3).

MutationType: missense_variant;transition

CivicName: L118P (c.353T>C)

MultipleGeneVariants: N/A

26 VHL patients from 18 families, who had undergone a partial adrenalectomy for pheochromocytoma were retrospectively analyzed. 1 patient from a single family was confirmed to have the mutation (L118P). Additional manifestations aside from pheochromocytoma are possible, but were not discussed. ACMG evidence codes: 'PP2' because they observe a missense variant in a gene where missense variants are a common mechanism of disease.