Hypothesis

A 32-year-old male patient presented to our outpatient clinic with vision loss in his left eye that started 2 months earlier.

PatientID: Proband

KindredID: 1

Case: M, 32Y0M, ethnicity unknown

DiseaseAssertion: VHL

FamilyInfo: Family history showed that his mother had unilateral vision loss (multiple retinal hemangioblastomas in both eyes) and died because of renal cell carcinoma. No mutation was detected. His sister and daughter were found to have the p.R161* variant. No pathology was detected in ophthalmologic examination of the patient’s 12-year-old daughter.

CasePresentingHPOs: HP:0009711; HP:0000572; HP:0010797; HP:0000107 (retinal capillary hemangioma; vision loss; hemangioblastoma; renal cyst)

CaseHPOFreeText: presented with vision loss in the left eye for 2 months - had a history of cerebral hemangioblastoma operation. Patient also underwent surgery approximately 8 years earlier (24Y) due to a cranial mass (cerebral hemangioblastoma). Cortical cyst 13 mm in diameter was detected in the left kidney on renal ultrasonography (USG).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161* (c.481C>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

CAID: N/A

gnomAD: N/A

VariantEvidence: VHL gene sequence analysis revealed a heterozygous mutation.

MutationType: stop_gained

CivicName: R161* (c.481C>T)

MultipleGeneVariants: N/A vh

InheritancePattern:AutosomalDominant DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:visionloss DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst AgeOfPresentation:hemangioblastoma:24 Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes Familial DiseaseEntity:VHL inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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