VCL variants in DCM cohorts

The table below lists the 13 rare (MAF<0.0001 in ExAC) protein-altering VCL variants identified in a cohort of 590 DCM patients. When this rare variant frequency of 0.02203 is compared with a background population rate of 0.01016, there is a case excess of 0.01187, although this is not statistically significant for protein-altering VCL variants in DCM (p=0.0111).

Variant Type: All protein-altering variants - Truncating variants - Non-Truncating variants

Source: LMM

No.	Variant (CDS)▼	Variant (Protein)	Variant Type▼	Cases (590)▼	LMM class	ExAC frequency
1.	c.1639C>T	p.R547X	nonsense	1	Likely Pathogenic	0.000008
2.	c.2862_2864delGTT		inframe	1	VUS favour pathogenic	0.000000
3.	c.3092G>A	p.R1031Q	missense	1	VUS	0.000000
4.	c.659dupA		frameshift	1	Likely Pathogenic	0.000000
5.	c.1844C>T	p.A615V	missense	1	VUS	0.000024
6.	c.952C>T	p.R318C	missense	1	VUS	0.000024
7.	c.313C>T	p.R105X	nonsense	1	Likely Pathogenic	0.000008
8.	c.3226C>T	p.R1076W	missense	1	VUS	0.000015
9.	c.2444A>G	p.K815R	missense	1	VUS favour pathogenic	0.000016
10.	c.2852C>G	p.P951R	missense	1	Likely Benign	0.000008
11.	c.1390A>C	p.K464Q	missense	1	VUS	0.000000
12.	c.562C>T	p.R188X	nonsense	1	Likely Pathogenic	0.000000
13.	c.3373C>T	p.R1125C	missense	1	VUS	0.000024

References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8.