Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America

Table 1

Summary of CentoXome GOLD results.

Gene	Variant coordinates	Zygosity	In silicoparameters	Allele frequencies	Type and classification
COL4A1	Chr13(GRCh37):g.110828842C>T	Het	PolyPhen: probably deleterious	gnomAD: -	Change in direction
	NM_001845.4:c.2987G>A		Align-GVGD: C65	ESP: -	Probably pathogenic
	p.(Gly996Asp)		SIFT: Deleterious	1000 G: -
	Exon 36		MutationTaster: Pathogenic	CentoMD: -	Class 2
			Conservation: nt high/aa high

Variant description based on the Alamut batch (latest version available). AlignGVD: C0: lower probability of interfering with function, C65: higher probability of interfering with function; splicing predictors: SSF, MaxEnt, HSF. genome aggregation database (gnomAD), exome sequencing project (ESP), 1000genome project (1000G), and CentoMD (latest version available). based on ACMG recommendations.