A 49 year old female (Patient 3) from Europe presented with a unilateral adrenal pheochromocytoma. PCR-SSCP genetic testing on paraffin-embedded tissues and peripheral blood confirmed germline mutation in the VHL gene (p.214Gext14 (c.640T>G), referred to in the paper by p.X>Gly+14AA (c.852T>G) due to a difference in transcript sequence). Family history and patient demographic is unknown. This patient underwent surgical resection.

PatientID: 3

KindredID: 1

Case: F, 49Y0M, Ethnicity Unknown

DiseaseAssertion: pheochromocytoma

FamilyInfo: N/A - Not mentioned

CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

CaseHPOFreeText: Unilateral, benign adrenal pheo (3cm) tumor was analysed. This patient underwent surgical resection.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.214Gext 14 (c.640T>G)

LegacyVariant: p.X>Gly+14AA (c.852T>G)

CaseProblemVariantFreeText: Stated in the paper with AF010238.1:p.X>Gly+14AA (c.852T>G); Sanger sequencing (Fig. 1), displays this should be p.X>Gly+14AA (c.853T>G), which translates to p.214Gext14 (c.640T>G).

ClinVarID: N/A

CAID: CA351756720 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.640T%3EG

gnomAD: N/A

VariantEvidence: LOH was observed

MutationType: missense_variant;transversion; stop_lost

CivicName: *214G (c.640T>G)

MultipleGeneVariants: N/A

PatientID: 16

KindredID: 16

Case: M, 20Y0M, Ethnicity Unknown

DiseaseAssertion: Adrenal pheochromocytoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

CaseHPOFreeText: The patient was found to have multiple benign tumour 1 cm in size in his adrenal gland.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET/SDHC/SDHB/SDHD

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.*214G(c.640T>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351756720 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.640T%3EG

gnomAD: N/A

VariantEvidence: The patient had LOH of VHL, SDHB, SDHC, and SDHD as indicated by Table 1.

MutationType: stop_lost

CivicName: *214G(c.640T>G)

MultipleGeneVariants: Somatic, RET, c.2307T>G

17 patients with genetic variants in SDHB, VHL, EPAS1, or RET with pheochromocytoma were identified retroactively for this study. 5 pathogenic germline variants were confirmed in patients with clinical criteria of von Hippel Lindau syndrome. Next generation sequencing (NGS) re-confirmed these germline mutations. One of which was a p.*214G (c.640T>G) mutation in patient 6, a 46Y male with pheochromocytoma. No further manifestation details were provided, nor family information.