Of the 13 individuals tested, V:2, IV:4, IV:6, III:2, III:3, and III:11 were all found to carry the P25L mutation in the VHL gene.
PatientID: III:2
KindredID: 1
Case: F, 62, Ethnicity Unknown
DiseaseAssertion: Asymptomatic
FamilyInfo: The patient's father (II:3) had a brain tumour at age 53 and died at age 78. The patient's paternal aunt (II:1) died of stomach cancer at age 80. The patient's paternal grandfather died at age 50 due to a brain tumour. The patient had three children all of whom carried the P25L mutation and were asymptomatic (IV:4 and IV:6) except patient IV:2 who presented with a retinal hemangioma and renal cyst. Her daughter (IV:2) had three children and one was found to carry the mutation. The patient had seven siblings, five of whom underwent genetic testing. Two were found to carry the mutation but both were asymptomatic (patient III:3 and III:11). Patient III:3 had six children one of whom died due to clear cell renal carcinoma at age 48 but did not carry the P25L mutation. Of the 13 family members tested, V:2, IV:4, IV:6, III:3, and III:11 were all found to carry the P25L mutation in the VHL gene. Refer to Figure 1 for pedigree.
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.P25L (c.74C>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 93330 https://www.ncbi.nlm.nih.gov/clinvar/variation/93330/
CAID: N/A
gnomAD: 0.002988 https://gnomad.broadinstitute.org/variant/3-10183605-C-T
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName:P25L (c.74C>T)
MultipleGeneVariants: N/A