VHL (c.308C > T, p.Pro103Leu).
This study analyzed a cohort of Norweigan pheochromocytoma patients for pathogenic germline variants. Blood samples from 42 patients were successfully analyzed for VHL, RET, SDHB, SDHC, SDHD and NF1. In total, 32 distinct DNA variants were found, 2 of which were in the VHL gene. DNA mutation analyses were performed on blood samples/ paraffin-embedded tissue samples. DN sequencing was performed using Big Dye v3 at 53 °C (Life Technologies, Inc). Patient 1 (case 15 in the paper) had a c.308C>T (p.Pro103Leu) mutation in the VHL gene. They presented with a pheochromocytoma and their age at the time of surgery was 48 years old, and they had no family history of neuroendocrine tumors. Their DNA was analyzed from a blood sample. ACMG evidence codes: 'PP2' because they observe a missense variant in a gene where missense variants are a common mechanism of disease.