A VUS VHL variant (NM_000551.4): c.123_137dupAGAGTCCGGCCCGGA (p.Ser43_Glu47dup) was identified in a patient with carotid body paraganglioma, which would have been missed or delayed significantly if the routine protocol had been applied. The gene discussed is VHL; the disease is carotid body paraganglioma.