Hypothesis

PatientID: 20

KindredID: 10

Case: M, 42Y0M, Indian

DiseaseAssertion: VHL

FamilyInfo: No relevant family history.

CohortInfo: This retrospective study was conducted at Department of Endocrinology of a tertiary care health centre in Western India. Patients presented to our institute between 2008 and 2016 were included in the study. During the study period a total of 33 patients were suspected to have VHL syndrome based on clinical features among whom 31 patients were found to have mutation in VHL gene. All patients are of Asian Indian descent.

CasePresentingHPOs: HP:0002666; HP:0010797 (Pheochromocytoma, Hemangioblastoma)

CaseHPOFreeText: Unilateral pheochromocytoma.

CaseNotHPOs: HP:0009711; HP:0001737; HP:0005584; HP:0030405; HP:0002668 (Retinal capillary hemangioma, Pancreatic cysts, Renal cell carcinoma, Pancreatic endocrine tumor, Paraganglioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L163F (c.487C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 480772, https://www.ncbi.nlm.nih.gov/clinvar/variation/480772/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: L163F (c.487C>T)

MultipleGeneVariants: N/A

InheritancePattern:DeNovoAssertion Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma AgeOfPresentation:pheochromocytoma:42 AgeOfPresentation:hemangioblastoma:42 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:487 ProteinPosition:163 AminoAcidChange:LEUtoPHE ClinVarID:480772 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L163F(c.487C>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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