In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control individuals. DNA samples from peripheral blood leukocytes underwent polymerase chain reaction (PCR) amplification, denaturing high-performance liquid chromatography (DHPLC), and direct sequence analysis of the entire coding sequence and intron-exon boundaries. The P138T (c.412C>A) missense mutation was found in a 21 yr old VHL patient with retinal hemangioblastomas and pheochromocytoma (index case 115). Proband and father were found to carry the P138T (c.412C>A) germline mutation of the VHL gene. Father, siblings and cousins were analyzed but no phenotype information was provided for these family members. Genotype information for siblings and cousins was not provided.

PatientID: 115

KindredID: 115

Case: Sex Unknown, 21Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Proband and father were found to carry the P138T (c.412C>A) germline mutation of the VHL gene. Father, siblings and cousins were analyzed but no phenotype information was provided for these family members. Genotype information for siblings and cousins was not provided.

CasePresentingHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, Retinal capillary hemangioma)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0000107; HP:0006770; HP:0010797; HP:0001732 (Renal cyst, Clear cell renal cell carcinoma, Hemangioblastoma, Abnormality of the pancreas)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table S1, S2 and S3

Variant: p.P138T (c.412C>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA16621932, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.412C%3EA

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: P138T (c.412C>A)

MultipleGeneVariants: N/A