PatientID: 1 (case)

KindredID: 1

Case: F, 16Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Family history revealed that a paternal aunt had kidney surgery at age 12 for unknown reason, whose daughter was reported to have poor vision in her left eye due to retinal problems. These individuals were not available so no genetic testing was done.

CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

CaseHPOFreeText: first presented with a unilateral total exudative retinal detachment diagnosed as Coats’ disease (no vision in her right eye since age 2 years). 8Y later (age 15Y), when she presented with classical retinal hemangioblastomas with reduced vision in the fellow eye, the diagnosis of VHL disease was confirmed. By age 16, she developed 3 consecutive total bullous retinal detachments with additional complications of macular dragging, chronic cystoid macular edema with a macular hole, subretinal fibrosis, and anterior and posterior vitreoretinal proliferation that required leaving silicone oil in the eye to maintain the retina in an anatomic position.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L128Ffs*31 (c.381delG)

LegacyVariant: p.128 (c.595delG)

CaseProblemVariantFreeText: Paper describes, a deletion of a single base (delG, guanine) at nucleotide 594 of the VHL gene, resulting in a shift in the translational frame of the mRNA after amino acid 128 and causing a premature stop codon at position 158. Therefore, c.381delG (LRG_322p1:p.(Leu128PhefsTer31)) confirms this.

ClinVarID: 625241 https://www.ncbi.nlm.nih.gov/clinvar/variation/625241/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: L128fs (c.381delG)

MultipleGeneVariants: N/A