LAMA4 variants in DCM cohorts

The table below lists the 6 rare (MAF<0.0001 in ExAC) protein-altering LAMA4 variants identified in a cohort of 121 DCM patients. When this rare variant frequency of 0.04959 is compared with a background population rate of 0.02282, there is a case excess of 0.02677, although this is not statistically significant for protein-altering LAMA4 variants in DCM (p=0.0638).

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

No. Variant (CDS) Variant (Protein) Variant Type Cases (121)LMM class ExAC frequency
1. c.2005G>A p.A669Tmissense 1VUS (1)0.000008
2. c.4415G>A p.R1472Hmissense 1VUS (1)0.000098
3. c.4831C>T p.L1611Fmissense 1VUS (1)0.000000
4. c.1901C>G p.A634Gmissense 1VUS (1)0.000000
5. c.2069G>A p.R690Hmissense 1VUS (1)0.000024
6. c.2619G>T p.Q873Hmissense 1VUS (1)0.000000


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