Fig. 2: Comparison of variants per gene: reportable vs “strong” VUS. | European Journal of Human Genetics

Fig. 2: Comparison of variants per gene: reportable vs “strong” VUS.

From: Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies

Fig. 2

A Number of variants per ciliopathy gene that are reportable (left bar for each gene: pathogenic or novel LOF) vs variants of uncertain significance VUS (right grey bar for each gene). Only genes where 5 or more individuals in this cohort showed variants are depicted. Variant types are color-coded in each bar: blue indicates missense (or in-frame indels), red nonsense/frameshift, yellow canonical splice site, green non-coding, and grey “strong” VUS. Note the different distribution of variant types per gene (truncating vs missense) and the increase in variants for some genes, but not for others between reportable variants and VUS (increase mostly for USH2A, GPR98/ADGRV1 and DYNC2H1). B Number of variants in ciliopathy genes shown per variant type for reportable variants (green bars) and unclear variants VUS (purple bars): as expected, the vast majority of VUS are missense variants. C Proportion of variant types (color-coded as above in (A) for the reportable variants (previously classified pathogenic and novel loss-of-function variants).

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