New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome

Table 1 Variants previously associated with Marfan syndrome difference distribution of one allele in the ESP population

Gene	Variant	Amino acid	European Americans genotype			African Americans genotype			All genotype			Ref
			Minor/Minor	Minor/Major	Major/Major	Minor/Minor	Minor/Major	Major/Major	Minor/Minor	Minor/Major	Major/Major
	c.59A > G^#	p.Y20C	0	3	4293	0	0	2197	0	3	6490	[1]
	c.1027G > A^#	p.G343R	0	2	4294	0	0	2197	0	2	6491	[22]
	c.1345G > A^#	p.V449I	0	2	4294	0	0	2197	0	2	6491	[23]
	c.2056G > A^#	p.A686T	0	0	4296	0	1	2196	0	1	6492	[24]
	c.2927G > A^#	p.R976H	0	2	4294	0	0	2198	0	2	6492	[25]
	c.3058A > G^#	p.T1020A	0	3	4293	0	0	2198	0	3	6491	[26]
	c.3422C > T	p.P1141L	0	13	4283	0	1	2197	0	14	6480	[27]
	c.3509G > A^#	p.R1170H	0	23	4273	0	2	2196	0	25	6469	[28]
	c.3797A > T^#	p.Y1266F	0	4	4292	0	0	2198	0	4	6490	[29]
	c.3845A > G^#	p.N1282S	0	2	4294	0	1	2197	0	3	6491	[30]
	c.4270C > G	p.P1424A	0	4	4292	0	0	2198	0	4	6490	[31]
*FBN1*	c.6055G > A	p.E2019K	0	1	4295	0	0	2198	0	1	6493	[32]
	c.6700G > A^#	p.V2234M	0	8	4288	0	0	2198	0	8	6486	[22]
	c.7241G > A^#	p.R2414Q	0	1	4295	0	0	2198	0	1	6493	[33]
	c.7379A > G^#	p.K2460R	0	2	4294	0	0	2198	0	2	6492	[34]
	c.7660C > T^#	p.R2554W	0	1	4295	0	0	2198	0	1	6493	[25]
	c.7661G > A^#	p.R2554Q	0	1	4295	0	0	2198	0	1	6493	[32]
	c.7702G > A^#	p.V2568M	0	0	4296	0	1	2197	0	1	6493	[34]
	c.7846A > G^#	p.I2616V	0	3	4293	0	1	2197	0	4	6490	[34]
	c.7852G > A^#	p.G2618R	0	1	4295	0	1	2197	0	2	6492	[29]
	c.8081G > A^#	p.R2694Q	0	1	4295	0	0	2198	0	1	6493	[24]
	c.8176C > T^#	p.R2726W	0	9	4287	0	5	2193	0	14	6480	[35]
	c.8494A > G^#	p.S2832G	0	1	4295	0	0	2198	0	1	6493	[24]

ESP: Exome Sequencing Project. ^#The variant was reported as a novel variant in the paper.

ISSN: 2730-6844