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Table 4 Variants of ABCC2 among infants with Dubin Johnson syndrome

From: Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome

Variant Variant type Allele frequency Reported ACMG classification
c.2302C > T; p.Arg768Trp Missense 4/12 (33.4%) Known pathogenic PS3, PM3, PM5, PP3, PP4 Pathogenic
c.298C > T;
p.Arg100Ter
Nonsense 2/12
(16.8%)
Known pathogenic PVS1, PM3, PP4 Pathogenic
c.2439 + 2T > C Splice-site disruption 1/12
(8.3%)
Known pathogenic PVS1, PS3, PM3, PP4 Pathogenic
c.351_355dup; p.Tyr119SfsTer34 Frameshift 1/12
(8.3%)
Known pathogenic PVS1, PM2, PM3, PP4 Pathogenic
c.3928C > T; p.Arg1310Ter Nonsense 1/12
(8.3%)
Known pathogenic PVS1, PM3, PP4 Pathogenic
c.2078 g > A; p.Gly693Glu Missense 1/12
(8.3%)
Novel PM2, PM3, PP3, PP4 Likely pathogenic
c.1181C > G; p.Thr394Arg Missense 1/12
(8.3%)
Novel PM2, PP3, PP4 VUS
c.2153A > G; p.Asn718Ser Missense 1/12
(8.3%)
Novel PM2, PP3, PP4 VUS
  1. ACMG American College of Medical Genetics and Genomics; PVS Pathogenic very strong; PM Pathogenic moderate; PP Pathogenic supporting; VUS Variants of uncertain significance