Table 2.

Prevalence of Rare VCL pLOF Variants (MAF in gnomAD <0.00002^*) in Probands vs. gnomAD

	Exomes Samples from the gnomAD Database (v2.1)	Probands Referred for Cardiomyopathy Testing	Probands with Clinical Diagnosis of DCM [LMM + ICL/RBH + OMGL]
Number of Individuals	125,297*	18,135	3,118
Number of VCL pLOF Alleles	39	23	11
Prevalence of VCL pLOF Variants	0.00031	0.0013	0.0035
Odds Ratio Compared to Prevalence in gnomAD (95% CI)	N/A	4.07 (2.43–6.82)	11.33 (5.80–22.15)
p value	N/A	<0.0001	<0.0001

This analysis is identical to the one presented in Table 3 but excludes two variants that are more common in gnomAD (p.Pro943Argfs*9 and p.Ala573Hisfs*8), as well as the multi exon duplication variant (c.241_622+1dup). Variants predicted to escape nonsense mediated decay in gnomAD or the proband cohort and those flagged as dubious in gnomAD v2.1 exomes were excluded from the analysis. MAF: minor allele frequency; DCM: dilated cardiomyopathy; LMM: Laboratory of Molecular Medicine cohort; ICL/RBH: Imperial College London/Royal Brompton Hospital; pLOF; putative loss of function.

^*Average number of individuals across all pLOF VCL variants.