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. Almost half of the variants in ClinVar are variants of uncertain significance (VUS). It’s unclear what clinical action to take for these variants, creating a challenge for clinicians. One potential way to resolve VUS is to develop functional assays to determine the effect the variant has on the gene product, at either the transcript or the protein level. While ClinVar can currently accept functional data, we are striving to make submission easier and more efficient and to make the data easier to find and use.
What will change?
In the coming weeks, we will make a prototype of these improvements available on ClinVar’s GitHub repository. The prototype will include:
- Updated submission templates
- An updated XSD and sample XML
- Mock-ups for the VCV, or variant, web pages
Submitters! These improvements will make it easier for data generators to submit the data to ClinVar. You will be able to submit data for thousands of variants from multiplexed functional assays, or for one or a few variants assessed in smaller experiments.
Users! These improvements will make it easier for you to find and understand functional data for variants.
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Questions?
If you have questions or would like to provide feedback, please reach out to us at [email protected].