In cases where variants are compatible with a recessive model, Exomiser versions 13.0.0 to 14.0.1 (inclusive) will incorrectly assign a PVS1 ACMG category to any Loss Of Function variant predicted to lead to NMD, irrespective of whether the gene is deemed intolerant to LOF or not. The result of this is are a few over-assigned Likely Pathogenic automated ACMG classifications. This will NOT affect the Exomiser combined score or variant ranking, only the labeling of the PVS1 category and subsequent ACMG assignment.
Users should be extra-vigilant when assessing recessive-compatible variants in these cases.
In cases where variants are compatible with a recessive model, Exomiser versions 13.0.0 to 14.0.1 (inclusive) will incorrectly assign a
PVS1ACMG category to any Loss Of Function variant predicted to lead to NMD, irrespective of whether the gene is deemed intolerant to LOF or not. The result of this is are a few over-assigned Likely Pathogenic automated ACMG classifications. This will NOT affect the Exomiser combined score or variant ranking, only the labeling of the PVS1 category and subsequent ACMG assignment.Users should be extra-vigilant when assessing recessive-compatible variants in these cases.