Hypothesis

only one patient, with an atypical clinical presentation, had an aberrant pattern in exon 3 which upon DNA sequencing was shown to harbor a G to A transversion mutation at nucleotide 695. All patients had normal RET exon 10, 11 and 16 DGGE migration patterns.

PatientID: N/A

KindredID: 1

Case: M, 34Y0M, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: None - Neither the symptoms nor a family history of VHL disease were found in the patient.

CasePresentingHPOs: HP:0002668; HP:0002666 (bilateral metachronous pheochromocytoma; paraganglioma)

CaseHPOFreeText: The first tumor occurred at age 13 and the second at age 34 (inferred from Table 1 as this was the only case with a bilateral metachronous).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161Q (c.482G>A)

LegacyVariant: R161Q (c.695G>A)

CaseProblemVariantFreeText: N/A

ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R161Q (c.482G>A)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma AgeOfPresentation:pheochromocytoma:13 PreviousTesting:RET ProteinPosition:161 cDNAposition:482 CivicName:R161Q(c.482G>A) AminoAcidChange:ARGtoGLU MutationType:missense_variant;transition ClinVarID:182983 ClinVarID:Yes Mutation:Germline RefSeq:AF010238.1 NonFamilial inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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