Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports

Table 1 Pathogenicity prediction of mutation/variant (s) identified in the ITGB2 gene in Patient 1 and Patient 2

Information/computation (in silico) predictive programs	c.920T>C (p.Leu307Pro) in exon 8	c.758G>A (p.Arg253His) in exon 7	c.262C>T (p.Gln88Ter) in exon 4
Human gene mutation database (HGMD)	Not identified	Not identified	Not identified
National center for biotechnology information (NCBI): dbSNP and ClinVar	Not identified	Uncertain significance rs200423927	Not identified
Exome aggregation consortium (ExAC) and 1000 genomes project	Not identified	ExAC 0.0002817 heterozygous (only)	Not identified
Mutation taster (http://www.mutationtaster.org/)	Disease causing	Disease causing	Disease causing
PolyPhen (http://genetics.bwh.harvard.edu/pph2/)	Probably damaging	Benign	-
SIFT (http://sift.jcvi.org/)	Damaging	Damaging	-
ACMG classification (2015)	Likely pathogenic (PM2, PM3, PP2, PP3)	Likely pathogenic (PM2, PM3, PP2, PP3)	Pathogenic (PVS1, PM2, PM3, PP3)