Abstract 2 Table 1

Variants of uncertain significance

Patient age	Mutation(s) identified	DNA	Protein	Consequence	Classification

29	ACTN2	c.1058G>A	p.(Arg353Gln)	Missense	VUS*
	MYPN	c.2829T>G	p.(Ile943Met)	Missense	VUS
54	KCNQ1	c.1246G>A	p.Val416Met	Missense	VUS
48	CACNA1C	c.2340G>A	c.2340G>A(p.=)	Splice region, synonymous	VUS
	TRPM4	c.2953+5G>C	-	Splice region, intron	VUS

*Variant of uncertain significance