PatientID: VCB.04T

KindredID: 5

Case: Sex Unknown, 24Y0M, Ethnicity Unknown

DiseaseAssertion: pheochromocytoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0002668; HP:0002666 (paraganglioma, pheochromocytoma)

CaseHPOFreeText: Presented with bilateral pheochromocytoma

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: MAX, RET, SDHA, SDHB, SDHC, SDHD, TMEM127

PreviouslyPublished: 25545346 (see table S1 and S10)

SupplementalData: Yes

Variant: p.V166Dfs*9 (c.480_481insCGATGCCTCCAGGT)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2573119327 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573119327

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_2_frameshift_variant

CivicName: V166Dfs*9 (c.480_481insCGATGCCTCCAGGT)

MultipleGeneVariants: N/A

Of 38 PPGL (pheochromocytoma and paraganglioma) cases studied, one was associated with an individual carrying the germline mutation ENST00000256474.2:c.480_481insCGATGCCTCCAGGT (ENSP00000256474.2:p.Val166AspfsTer9) of the VHL gene. This mutation was identified using Sanger sequencing. The authors identified the reference sequence used as NM_000551.3. This patient presented with phechromocytoma and paraganglioma. This patient was previously published in PMID: 25545346. ACMG evidence codes: 'PP4' since the patient presents phenotypes highly specific for a disease with a single genetic etiology.