PLN variants in DCM cohorts

The table below lists the 4 rare (MAF<0.0001 in ExAC) protein-altering PLN variants identified in a cohort of 1095 DCM patients (355 patients from OMGL, 740 patients from LMM). When this rare variant frequency of 0.00365 is compared with a background population rate of 0.00048, there is a case excess of 0.00317, although this is not statistically significant for protein-altering PLN variants in DCM (p=0.0027).

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 (1095)OMGL classLMM class ExAC frequency
1. c.61C>A p.P21Tmissense 1VUS (1)0.000057
2. c.43G>A p.A15Tmissense 1VUS favour pathogenic (1)0.000000
3. c.40_42delAGA inframe 1Pathogenic (1)0.000000
4. c.37dupA frameshift 1VUS favour pathogenic (1)0.000000


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