SGCD variants in DCM cohorts

The table below lists the 4 rare (MAF<0.0001 in ExAC) protein-altering SGCD variants identified in a cohort of 590 DCM patients. When this rare variant frequency of 0.00678 is compared with a background population rate of 0.00338, there is a case excess of 0.00340, although this is not statistically significant for protein-altering SGCD variants in DCM (p=0.1437).

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

No. Variant (CDS) Variant (Protein) Variant Type Cases (590)LMM class ExAC frequency
1. c.390delA frameshift 1Likely Pathogenic (1)0.000000
2. c.731C>T p.P244Lmissense 1VUS (1)0.000049
3. c.394G>A p.V132Imissense 1VUS (1)0.000097
4. c.839C>A p.S280Ymissense 1VUS (1)0.000000


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