. Author manuscript; available in PMC: 2021 Sep 1.

Published in final edited form as: Hum Mutat. 2020 Jun 24;41(9):1577–1587. doi: 10.1002/humu.24061

Table 1.

Prevalence of VCL pLOF Variants 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	58	30	13
Prevalence of VCL pLOF Variants	0.00046	0.0017	0.0042
Odds Ratio Compared to Prevalence in gnomAD (95% CI)	N/A	3.57 (2.30–5.55)	9.01 (4.93–16.45)
p value	N/A	<0.0001	<0.0001

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. 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.