The role of rare variants in MYOZ2 as causative mutations in Dilated Cardiomyopathy is described below. By comparing the frequency of MYOZ2 variants in large DCM clinical cohorts to the background population rate in the ExAC database, the proportion of DCM patients with pathogenic mutations in MYOZ2 can be estimated, as well as the likelihood that a rare (population allele frequency <0.0001) MYOZ2 variant identified in a DCM patient is disease-causing. Summary data for different variant classes (all protein-altering variants, loss of function truncating variants and non-truncating variants) is highlighted - see the table below for full details of this analysis.
Excess of MYOZ2 variants in DCM: -0.26% (p=1.0000)
Based on an analysis of all rare protein-altering variants (MAF<0.0001 in ExAC) in MYOZ2 found in 121 DCM samples sequenced by OMGL and LMM and in reference samples of the ExAC population database. As there is no excess burden of variation in the disease cohort, this analysis suggests that MYOZ2 variants do not contribute to DCM. Please note as this is based on a small DCM cohort, the data should be used with caution.
|Excess in DCM||-0.26%
0.10 - 25.96
1.22 - 354.76
0.11 - 28.15
The Etiological Fraction (EF) is the proportion of affected carriers where the variant caused DCM. The Odds Ratio (OR) describes the odds of having a rare variant in the patient cohort to the odds in the ExAC cohort. Fisher's exact test p-values are displayed for case excess, 95% confidence intervals for EFs and ORs.
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