As previously announced, NCBI is improving the way that functional data are submitted to ClinVar and how they are represented in the XML format and on the website. We have started enhancing support for functional data and would like your feedback!
Coming soon! Mock-ups for the VCV, or variant, web pages will be posted soon. Below is an illustration of how functional data could look in the new variant display.
Functional data are a critical type of evidence for the classifications of both germline and somatic variants, particularly those with uncertain significance (VUS). For example, RNA-seq analysis may be performed to determine if variant at a splice junction affects splicing. Or an in vitro biochemical assay may be developed to measure the effect of every possible single nucleotide variant in a gene encoding an enzyme.
Functional data may be submitted to ClinVar on its own or as part of the evidence for a classification. The ClinVar team will contact submitters who already have functional data in ClinVar to help them update and improve their contribution to ClinVar using the new format. Additionally, we anticipate allowing expert panels to provide assertions for the strength of functional evidence as annotations on submissions of functional data. These enhancements to ClinVar's data model and website will make it easier for clinical variant scientists and others to discover relevant functional data, whether generated as an experiment for a single variant or as a multiplex assay of variant effect (MAVE).
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