Thirty-five unrelated patients suspected of having von Hippel-Lindau disease were analyzed and 32 VHL gene variants were found in 35 patients using PCR and SSCP by peripheral blood leukocytes. An association of clear cell renal carcinoma development with a relatively high loss of structural stability in VHL protein missense mutations was discovered. A mutation, P154= (c.462A>G) (noted as a splice-site mutation: g.8665A>G, in the paper originally) was found in a patient with retinal hemangioblastomas, cerebellar hemangioblastomas, and pancreatic cyst, the pateints age on onset was 13 years old. The family history also included incidences of clear cell renal cell carcinoma and renal cysts.

GroupID/ KindredID: F42

Case: Sex unknown, 13Y0M, Spanish

DiseaseAssertion: assumed VHL

FamilyInfo: familial antecedents of clear cell carcinoma and renal cysts were found

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

CaseHPOFreeText: Age of onset is 13Y0M.

CaseNotHPOs: HP:0002666; HP:0006770; HP:0000107 (pheochromocytoma, clear cell renal cell carcinoma, renal cysts)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P154P (c.462A>G)

LegacyVariant: g.8665A>G (splice-site)

CaseProblemVariantFreeText: Patient was reported with the g. (genomic) coding positions. The g.8665A>G variant worked out to correspond with p.P154P (c.462A>G). This also happens to be a synonymous variant, not a splice variant like the paper calls it.

ClinVarID: 411977 https://www.ncbi.nlm.nih.gov/clinvar/variation/

CAID: N/A

gnomAD: 0.000003976 https://gnomad.broadinstitute.org/variant/3-10188319-A-G

VariantEvidence: N/A

MutationType: synonymous_variant

CivicName: P154= (c.462A>G)

MultipleGeneVariants: N/A