Table 1.

Results of further genetic testing of patient.

Gene	NOTCH3	MTHFR
Variable site	c.931T > G chr19-15302340 p.C311G	c.665C > T chr1-11856378 p.A222V
Zygote	Heterozygosis 135/176 0.57	Isozygoty 0/401 1.00
Carrying rate of normal population	-	0.3085568
Transcription version gene subregion	NM_000435.2 exon6	NM_005957.4 exon5
Family validation	-	-
ACMG variant rating	Pathogenic	VUS
Disease information	1. Cerebral arteriosis with subcortical infarction and leukoencephalopathy type 1 (AD); 2. Lateral meningocele syndrome (AD); 3. Myofibromatosis in infants type 2 (AD)	1. MTHFR-deficient homocysteinuria (AR)