Case report : a novel ASXL3 gene variant in a Sudanese boy

BMC Pediatrics

Table 1 Genomic findings and variant interpretation

Gene	Genomic location	HGVS cDNA	HGVS protein	Zygosity	Parent of origin	Interpretation
ASXL3	Chr18:31322918 C>T(GRCh37)	c.3043C>T (NM_030632.3)	p.Q1015X	Het	De novo	Pathogenic (PVS1,PS2, PM2,PP4,PP5)

Criteria: PVS1: null variant; PS2: de novo in a patient with disease and no family history; PM2: absent from controls; PP4: patient’s phenotype is highly specific for a disease with a single genetic etiology; PP5: reputable source recently reports the variant as likely pathogenic, but evidence was not available for us to perform an independent evaluation.

ISSN: 1471-2431