Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Table 1 The list of ADNP variants identified in the reported individuals

ID	Age/months	Gender	Variant in cDNA (NM_015339.5)	Protein change (Q9H2P0)	Variant type	Inheritance	ACMG	Clinvar	HGMD	Mutationtaster	CADD	gnomAD (AC\|Hom)
hmut1	42	Male	c.64dupA	p.I22Nfs*3	Frameshift	De novo	Pathogenic (PVS1 + PS2 + PM2 + PP5)	Pathogenic	DM?			0\|0
hmut2	38	Female	c.498_499del	p.Y166*	Deletion	De novo	Pathogenic (PVS1 + PS2 + PM2)					0\|0
hmut3	86	Male	c.673C > T	p.R225*	Nonsense	De novo	Pathogenic (PVS1 + PM2 + PM6)	Pathogenic	DM	D	35	0\|0
hmut5	74	Male	c.2157C > A	p.Y719*	Nonsense	De novo	Pathogenic (PVS1 + PM2 + PM6)	Pathogenic	DM	D	22.9	0\|0
hmut6	24	Female	c.2157C > A	p.Y719*	Nonsense	Not available	Pathogenic (PVS1 + PM2 + PM6)	Pathogenic	DM	D	22.9	0\|0
hmut7	44	Male	c.2157C > G	p.Y719*	Nonsense	De novo	Pathogenic (PVS1 + PS2 + PM2)	Pathogenic	DM	D	22.9	0\|0
hmut8	36	Male	c.2157C > G	p.Y719*	Nonsense	De novo	Pathogenic (PVS1 + PS2 + PM2)	Pathogenic	DM	D	22.9	0\|0
hmut10	33	Female	c.2188C > T	p.R730*	Nonsense	De novo	Pathogenic (PVS1 + PS2 + PM2 + PP5)	Pathogenic	DM	D	36	0\|0
hmut11	13	Male	c.2188C > T	p.R730*	Nonsense	De novo	Pathogenic (PVS1 + PS2 + PM2 + PP5)	Pathogenic	DM	D	36	0\|0
hmut12	16	Male	c.2188C > T	p.R730*	Nonsense	De novo	Pathogenic (PVS1 + PS2 + PM2)	Pathogenic	DM	D	36	0\|0
hmut13	42	Male	c.2289delC	p.Y764Mfs*8	Frameshift	Not available	Pathogenic (PVS1 + PS2 + PM2)					0\|0
hmut14	25	Male	c.2355_2356 del AA	p.E785Dfs*2	Frameshift	De novo	Likely Pathogenic (PVS1 + PM2)					0\|0
hmut15	56	Female	c.2491_2494 del TTAA	p.L831I fs*82	Frameshift	De novo	Pathogenic (PVS1 + PS2 + PM2)	Pathogenic	DM			1\|0

ISSN: 2040-2392