Hypothesis

7 Missense p.(Val130Phe) 5 1

GroupID: 7

DiseaseAssertion: VHL

Group size: 6

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

Group Info: Retrospective analysis of a longitudinal cohort of 21 VHL germline mutation carriers and retinal haemangioblastomas. All patients were categorized in two genotypic categories: missense mutations and truncating mutations. From this pedigree, 6 individuals were suspected of VHL disease. 5/6 individuals developed RH, while 1/6 did not.

GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

GroupHPOFreeText: 5/6 patients in this family with VHL disease presented with retinal capillary hemangioma.

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table S1

Variant: p.V130P (c.388G>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 496061, https://www.ncbi.nlm.nih.gov/clinvar/variation/496061/

CAID: N/A

gnomAD: N/A

VariantEvidence: Chr3(GRCh37): g.10188245G>T

MutationType: missense_variant; transversion

CivicName: V130P (c.388G>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion AssumedRefSeq:NM_000551.3 Familial SupplementalData DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma CivicName:V130P(c.388G>T) cDNAPosition:388 ProteinPosition:130 AminoAcidChange:VALtoPRO ClinVarID:Yes ClinVarID:496061 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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