Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

Table 1 The reported variants in PPP1R13L and their related phenotypes

No	Nucleotide change	Amino acid change	dbSNP	CADD	SIFT	Polyphen-2	PROVEAN	Mutation taster	ClinVar	ACMG	Condition	References
1	c.2241C > G	p.Tyr747Ter	rs1114167453	43	–	–	–	D	P	P	DCM,CCS	[15, 20]
2	c.1610delG	p.Pro537LeufsTer100	–	–	DMG	PD	D	PD	LP	P	DCM	[20]
3	c.2486_2487delinsCT	p.Ter829Serext*2	–	–	–	–	–	–	–	VUS/P	DCM	[20]
4	c.736_764del	p.Pro246GlyfsTer15	–	–	DMG	PD	N	PD	P	P	DCM	[20]
5	c.2167A > C	p.Thr723Pro	–	31	DMG	PD	D	D	VUS	VUS/LP	DCM	[20]
6	c.1537delC	p.Val513CysfsTer124	rs34338233	28.5	DMG	PD	D	PD	LP	P	DCM	[20]
7	c.1219C > T	p.Gln407Ter	rs1290915929	34	–	–	–	D	LP	P	DCM	[20]
8	c.2396G > C	p.Trp799Ser	rs748300482	29.7	DMG	PD	D	D	VUS	VUS/LP	DCM	[20]
9	c.956_962dup	p.Ser322GlnfsTer4	–	–	DMG	PD	N	PD	–	P	CWH	[14]
10	c.1858G > C	p.Ala620Pro	rs774027921	23.8	DMG	PD	N	D	–	VUS	ACM	[13]

P: pathogenic; LP: likely pathogenic; D: disease causing; VUS: uncertain significance; DMG: damaging; T: tolerated; N: neutral; PD: probably damaging; DCM: dilated cardiomyopathy; CCS: cardio-cutaneous syndrome; CWH: cardiomyopathy and woolly haircoat syndrome; ACM: arrhythmogenic cardiomyopathy

ISSN: 1471-2261