Novelty of the Variant reported in gnomAD

At the juncture of our analysis, one novel variant had not been documented in gnomAD, and we consequently reported it in ClinVar. Subsequently, this variant has been reported in gnomAD. Therefore, can we assert the novelty of this variant in our manuscript?

Hi Kurva,

You could write something akin to what you put here – that the variant wasn’t seen in gnomAD v3 (I assume), but appears at allele frequency X% in the larger gnomAD v4 dataset that was released during analyses.

Hello Kaitlin,
Thank you for responding.
During our in-house WES data analysis and at the time of reporting this variant (X) to ClinVar on January 6, 2023, the variant was not present in the gnomAD database, likely version 3.0. However, in the latest release of gnomAD (v4.0.0) on November 1, 2023, this variant was reported. We are currently in the process of writing our manuscript. Can we claim this variant as novel in our manuscript.

This is ultimately your call, as it is your work and your paper. Novelty is a moving target, however, so you could say it was “novel when identified, but has now been seen in gnomAD”. Beyond that, any reviewer will be able to look this up in gnomAD themselves so claiming novelty may look odd when it is present in a public database.

Thank you for your suggestion, it will help