The authors presented a cased of a 28-year-old woman with neurological symptoms from two haemangioblastomas (cerebellar and cerebro-spinal). Refined clinical work-up revealed pancreatic cysts and angiomatosis retinae (retinal hemangioblastoma). Clinical work-up revealed no pheochromocytoma was found in the patient. PCR/SSCP analysis and fluorescence-labelled based excision sequence scanning (F-BESS) were used to detect mutation in the VHL gene. The L140Pfs*4 (c.418dup) mutation was detected in the patient, referred to in the paper by c.631_632insC due to a difference in transcript sequence. No signs of VHL disease was detected in the patient's family members (mother, brother, sister), and genetic analysis also did not reveal any VHL mutation in the family members. The patient’s father died from a myocardial infarction at the age of 58 years and was not tested for VHL. ACMG: 'PP4' because the patients' phenotypes are highly specific for a disease with single genetic etiology.

PatientID: None

KindredID: 1

Case: F, 28Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: No other family members presented any signs of VHL disease. DNA was available from her sister (32 years), brother (29 years) and mother (55 years). The patient’s father died from a myocardial infarction at the age of 58 years. Suggesting de novo but unclear with no test on father

CasePresentingHPOs: HP:0010797, HP:0006880, HP:0001737, HP:0009711 (hemangioblastoma, cerebellar hemangioblastoma, pancreatic cysts, retinal capillary hemangioma)

CaseHPOFreeText: at age 28, the patient presented with neurological symptoms from two hemangioblastomas (cerebellar and cerebro-spinal).

CaseNotHPOs: HP:0002666 (pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: L140Pfs*4 (c.418dup)

CaseProblemVariantFreeText: N/A

LegacyVariant: c.631_632insC

ClinVar: N/A

CAID: CA432421871 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.418dup

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_1_frameshift_variant

CivicName: L140fs (c.418dup)

MultipleGeneVariants: N/A