HLCS and hyperinsulinemic hypoglycemia, familial, 4: For example, Donti et al. have revealed five cases of HLCS deficiency with broad differences in initial presentation and phenotype, and they have also described six novel pathogenic variants: c.500A > C (p.Tyr167Ser), c.1532A > T (p.Asn511Ile), c.2078G > C (p.Gly693Ala), c.977G > A (p.Gly326Glu), c.1710C > G (p.Asn570Lys), and c.1519 + 5G > A [9].