De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report

Table 2 List of search results in ClinVar

Individual	cDNA	Protein	De novo	GnomAD	ACMG scoring	Pathogenicity
Patient 1	c.970G>A	p.G324S	Yes	Not reported	PS2 + PM1 + PM2 + PP3	Likely path
1	c.970G>A	p.G324S	No	Not reported	PM1 + PM2 + PP3	VUS
Patient 2	c.889G>A	p.A297T	Yes	Not reported	PS2 + PM1 + PM2 + PP3	Likely path
1	c.889G>A	p.A297T	No	Not reported	PM1 + PM2 + PP3	VUS
2	c.889G>A	p.A297T	No	Not reported	PM1 + PM2 + PP3	VUS
3	c.889G>A	p.A297T	No	Not reported	PM1 + PM2 + PP3	VUS
4	c.889G>A	p.A297T	No	Not reported	PM1 + PM2 + PP3	VUS

de novo parents available to confirm de novo status, likely path likely pathogenic, VUS variants of uncertain significance. Each pathogenic criterion is weighted as very strong (PVS), strong (PS); moderate (PM), or supporting (PP)

ISSN: 1755-8794