While ATM exon 54 skipping has not been reported before explicitly, the splice acceptor variant, ATM:c.7928-1G > A (rs1555126163), which was found in an ataxia-telangiectasia patient, but not in controls, is classified as likely pathogenic according to the genetic testing facility Invitae (https://www.invitae.com/en) as reported in ClinVar, since it was assumed to induce exon 54 skipping. The gene discussed is ATM; the disease is Ataxia-telangiectasia.