PLN non-truncating variants in DCM cohorts


The table below lists the 3 rare (MAF<0.0001 in ExAC) non-truncating PLN variants identified in a cohort of 740 DCM patients. When this rare variant frequency of 0.00405 is compared with a background population rate of 0.00042, there is a case excess of 0.00363, although this is not statistically significant for non-truncating PLN variants in DCM (p=0.0132).


Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      Combined (OMGL + LMM)     -     OMGL     -     LMM



No. Variant (CDS) Variant (Protein) Variant Type Cases (740)LMM class ExAC frequency
1. c.43G>A p.A15Tmissense 1VUS favour pathogenic0.000000
2. c.40_42delAGA inframe 1Pathogenic0.000000
3. c.61C>A p.P21Tmissense 1VUS0.000057

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.