PRKAG2 variants in DCM cohorts

The table below lists the 2 rare (MAF<0.0001 in ExAC) protein-altering PRKAG2 variants identified in a cohort of 546 DCM patients (355 patients from OMGL, 191 patients from LMM). As the background population rate of rare protein-altering PRKAG2 variants (0.00532) is greater than this case frequency (0.00366), there is no excess of variants in this DCM patient cohort, suggesting that protein-altering PRKAG2 variants are not causative for DCM.

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 (546)OMGL classLMM class ExAC frequency
1. c.620C>G p.S207Cmissense 1VUS (1)0.000000
2. c.425C>T p.T142Imissense 1VUS (1)0.000074


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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.