NM_015338.5:c.2694G>A (p.Trp898Ter) is a nonsense variant in exon 13 of 13 in ASXL1, a gene for which loss of function is an established disease mechanism.¹ Under ClinGen SVI PVS1 recommendations (PMC6185798), the variant is located in the terminal exon and is not expected to undergo nonsense-mediated decay; PVS1 is applied at moderate strength.² The variant is extremely rare in population databases with an allele frequency of 3.98 × 10⁻⁶ in gnomAD v2.1 and 1.24 × 10⁻⁶ in gnomAD v4.1, meeting PM2 at supporting level.³ No additional pathogenic or benign criteria were met; the variant is absent from ClinVar, no variant-specific functional studies exist, and no segregation or de novo data are available.⁴ Based on generic ACMG/AMP 2015 combination rules, one moderate criterion (PVS1_Moderate) and one supporting criterion (PM2_Supporting) are met, yielding a classification of Likely Pathogenic.⁵