Genetic predisposition of Asparaginase-induced hypertriglyceridemia in children with acute lymphoblastic leukemia: Two case reports and review of literature

Table 3 Genetic variants identified in patients with severe hypertriglyceridemia

Patients	Genes	Gene functions	Ref.	Variants	ACMG classification	CADD	GnomAD
Patient 1	LPL	Encodes the main enzyme of triglyceride hydrolysis, lipoprotein lipase	[28,31]	Chr8:g.19948197G>A; NM_000237.3:c.106G>A; NP_000228.1:p.Asp36Asn, rs1801177	Likely benign	19.6	1.6%
Patient 2	LPL	Encodes the main enzyme of triglyceride hydrolysis, lipoprotein lipase	[28,31]	Chr8:g.19956018A>G; NM_000237.3:c.953A>G; NP_000228.1:p.Asn318Ser, rs268	Conflicting classifications of pathogenicity	21.3	1.97%
	APOA5	Encodes apolipoprotein A-V, which activates lipoprotein lipase and participates in the absorption of residual particles and the secretion of very-low-density lipoprotein by hepatocytes	[31]	Chr11:g.116790666T>C; NM_001371904.1:c.563A>G; NP_001358833.1:p.Lys188Arg rs1303929283	Variant of uncertain significance	21.5	0.0009%

ACMG: American College of Medical Genetics and Genomics; CADD: Combined Annotation Dependent Depletion; GnomAD: Genome Aggregation Database.