GroupID: 9

DiseaseAssertion: assumed VHL

GroupSize: 3

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: 3 of the 573 patients discussed in this paper were found to the mutation belonging to 1 family. This mutation was found in 1 VHL family with 3 patients.

GroupPresentingHPOs: HP:0006880; HP:0005584; HP:0009711 (cerebellar hemangioblastoma, renal cell carcinoma; retinal capillary hemangioma)

GroupHPOFreeText: 2 patients had retinal angiomas diagnosed at a mean age of 15Y, 2 patients had cerebellar hemangioblastomas diagnosed at a mean age of 15Y, and 1 patient had RCCs with an age of diagnosis of 40Y.

GroupNotHPOs: HP:0002666 (pheochromocytoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.S72Pfs*87 (c.214del)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA658795180 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.214del

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: S72fs (c.214del)

MultipleGeneVariants: N/A

PatientID: 3

KindredID: 3

Case: M, 72Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

CaseHPOFreeText: First diagnosed with a left adrenal pheochromocytoma resected at age 51. He was later referred to the NIH where at age 72 surgical debulking was carried out revealing diffuse peritoneal metastases.

CaseNotHPOs: HP:0100006; HP:0000478; HP:0009726 (Neoplasm of the central nervous system, Abnormality of the eye, Renal neoplasm)

CaseNotHPOFreeText: Opthalmological examinations and imaging studies for lesions in the central nervous system, kidneys and organ systems failed to reveal any evidence of VHL syndrome.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table 1

Variant: c.340+5G>C

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 36901, https://www.ncbi.nlm.nih.gov/clinvar/variation/36901/

CAID: N/A

gnomAD: 0.01119 https://gnomad.broadinstitute.org/variant/3-10183876-G-C

VariantEvidence: This variant’s large allele frequency means this is likely non disease causing (not deleterious).

MutationType: splice_site_variant

CivicName: Splice Region (c.340+5G>C)

MultipleGeneVariants: N/A

PatientID:1

KindredID: S3

Case: F, 35Y0M, Indian

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0001737, HP:0010797 (Pancreatic cysts, Hemangioblastoma)

CaseHPOFreeText: multi-cystic pancreatic lesions and CNS hemangioblastoma

CaseNotHPOs: HP:0009711, HP:0005584, HP:0002666, HP:0030393 (Retinal capillary hemangioma, renal cell carcinoma, pheochromocytoma, endolymphatic sac tumor)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S72P (c.214T>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223163 https://www.ncbi.nlm.nih.gov/clinvar/variation/223163/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_transition

CivicName: S72P(c.214T>C)

MultipleGeneVariants: N/A

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AssayResult: 5.2

AssayResultAssertion: Normal

StandardErrorMean: 0.7

HGVS: NM_024675.3:c.3433G>C p.(Gly1145Arg)

AssayResult: 89.4

AssayResultAssertion: Normal

ReplicateCount: 26

StandardErrorMean: 12.7

Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

HGVS: NM_198056.2:c.5237C>T p.(Ala1746Val)