A case describes a 22Y male presenting with a believed novel sporadic mutation labeled as 'NT474INST' by the authors (c.474insT resulting in a frameshift mutation). He complained of a shadow in his right eye and was diagnosed with retinal detachment secondary to a retinal hemangioblastoma. MRI of the brain revealed a hyper vascular lesion in the medulla and a smaller lesion at the medullary-spinal cord junction. Weighted abdominal MRI revealed innumerable pancreatic cysts and multiple benign-appearing renal cysts. He also presented with an epididymal cyst. After surgical resection of the retinal hemangioblastoma, the patient remained asymptomatic. The patient has a no family history of VHL but family genotype is not described.

PatientID: None

KindredID: 1

Case: M, 22Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: No notable family history.

CasePresentingHPOs: HP:0000541; HP:0010797; HP:0009711; HP:0030424; HP:0005562; HP:0001737 (Retinal detachment, Hemangioblastoma, Retinal capillary hemangioblastoma, Epididymal cyst, Multiple renal cysts, Pancreatic cysts)

CaseHPOFreeText: Complained of a shadow in his right eye and was diagnosed with retinal detachment secondary to a retinal hemangioblastoma. MRI of the brain revealed a hyper vascular lesion in the medulla and a smaller lesion at the medullary-spinal cord junction. Weighted abdominal MRI revealed innumerable pancreatic cysts and multiple benign-appearing renal cysts. After surgical resection of the retinal hemangioblastoma, the patient remains asymptomatic.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.K159* (c.474_475insT)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA432423112, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.474_475insT

gnomAD: N/A

VariantEvidence: Reported as: NT474INST. Authors state that this is believed to be a novel sporadic mutation.

MutationType: insertion; plus_1_frameshift_variant; stop_gained

CivicName: K159* (c.474_475insT)

MultipleGeneVariants: N/A