Hypothesis

GroupID: 81

DiseaseAssertion: assumed VHL

GroupSize: 4

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: 4 of the 573 patients discussed in this paper were found to have identical variants. This mutation (c.506T>C) was found in 1 VHL family with 4 patients.

GroupPresentingHPOs: HP:0005584; HP:0009711 (renal cell carcinoma; retinal capillary hemangioma)

GroupHPOFreeText: 3 patients had retinal angiomas with a mean age of diagnosis of 22Y, and 2 patients had RCCs with a mean age of diagnosis of 28Y.

GroupNotHPOs: HP:0002666; HP:0006880 (pheochromocytoma, cerebellar hemangioblastoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.L169P (c.506T>C)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 428809 https://www.ncbi.nlm.nih.gov/clinvar/variation/428809/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: L169P (c.506T>C)

MultipleGeneVariants: N/A

Familial Mutation:Germline ExperimentalAssay InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma SupplementalData ClinVarID:428809 ClinVarID:Yes RefSeq:NM_000551.2 cDNAposition:506 MutationType:missense_variant;transition ProteinPosition:169 AminoAcidChange:LEUtoPRO CivicName:L169P(c.506T>C) FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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