. 2018 Apr 30;23(5):e12548. doi: 10.1111/anec.12548

Table 2.

SCN5A mutations in this cohort

Exon	DNA change	Protein change	Number of patients		Novel	Peak Na⁺ current reduction	Comments	ExAC	Clinvar^c	SCN5A‐specific classification	ACMG‐AMP criteria
Exon	DNA change	Protein change	BrS+	BrS−	Novel	Peak Na⁺ current reduction	Comments	ExAC	Clinvar^c	SCN5A‐specific classification	ACMG‐AMP criteria
Intron 5	c.611+1G>A		8	1	No	T	2 families	0/41380	1P	PP	P
9	c.1045G>A	p.(Asp349Asn)	3	0	No	?	2 families	2/120416	1VUS	VUS FP	VUS
9	c.1100G>A	p.(Arg367His)	1	0	No	100%		0/118952	‐	PP	P
9	c.1127G>A	p.(Arg376His)	6	6^a	No	70%	2 families	0/107056	1P	PP	P
10	c.1312A>T	p.(Met438Leu)	1	0	Yes	?		0/117992	‐	PP	VUS
15	c.2268_2271del	p.(Phe756Leufs*8)	1	3	Yes	T		0/120482	‐	PP	LP
16	c.2466G>A	p.(Trp822*)	4^b	2	Yes	T	c.2465G>A or p.Trp822* described	0/117272	‐	PP	P
16	c.2658T>A	p.(His886Gln)	4	3^b	Yes	?	3 families	0/121102	‐	PP	P
Intron 25	c.4437+5G>A		0	2	No	T		0/39242	1VUS	PP	VUS
Intron 27	c.4813+3_4813+6dup		13	11	No	T	8 families	0/115016	1LP	PP	P
28	c.4895G>A	p.(Arg1632His)	2	6	No	0%^d	2 families	1/121382	‐	VUS FP	P
28	c.4978A>G	p.(Ile1660Val)	1	1	No	100%		3/121412	1LP	VUS‐FP	LP

BrS, Brugada syndrome; ExAC, exome aggregation consortium; FP, favor pathogenic; LP, likely pathogenic; P, pathogenic; PP, probably pathogenic; T, truncating mutation (introduction of stop codon, frameshift or splice site mutation); VUS, variant of unknown significance.

Two patients reached the composite endpoint.

One patient reached the composite endpoint.

In clinvar, annotations based only on literature are not reported here.

Loss of function of this mutation is based on altered channel kinetics.