PatientID: Case

KindredID: 1

Case: M, 9Y5M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: This patient has a large family history of VHL disease (4 generations). 12 other members are reported in Fig 1. as having VHLd although their genotyping is not availably discussed. Only the proband’s mother was said to have the disease and the Exon 3 deletion, passing away due to complications of a hemangioblastoma in the CNS.

CasePresentingHPOs: HP:0030424 (Epididymal cyst)

CaseHPOFreeText: This is a pediatric patient with both familial erythrocytosis type 2 and VHL disease. First diagnosed with polyglobulia (polycythemia) at 8Y. A physical examination showed a tumor in the right testicle (cyst in the right epididymis)

CaseNotHPOs: N/A

CaseNotHPOFreeText: Several studies were conducted, such as venous blood gas, lung VQ scan, echocardiogram, cardiac catheterization, bone marrow aspirate, bone biopsy, respiratory function analysis, and ocular fundus study, all of which were reported as normal.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S139C (c.416C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 135956 https://www.ncbi.nlm.nih.gov/clinvar/variation/135956/

CAID: N/A

gnomAD: 0.00008130 https://gnomad.broadinstitute.org/variant/3-10188273-C-G

VariantEvidence: This is a case of a compound heterozygote patient with von Hippel-Lindau disease and familial erythrocytosis type 2. c.416C>G (p.Ser139Cys) and deletion of exon 3 of the VHL gene coexist in the same individual. This should explain the polyglobulia found in the case.

MutationType: missense_variant; transversion

CivicName: Exon 3 deletion AND S139C (c.416C>G)

MultipleGeneVariants: Germline, VHL, exon 3 deletion