GLA non-truncating variants in DCM cohorts


The table below lists the 0 rare (MAF<0.0001 in ExAC) non-truncating GLA variants identified in a cohort of 541 DCM patients (355 patients from OMGL, 186 patients from LMM). As the background population rate of rare non-truncating GLA variants (0.00100) is greater than this case frequency (0.00000), there is no excess of variants in this DCM patient cohort, suggesting that non-truncating GLA variants are not causative for DCM.


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


References

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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.