The c.1269+1del variant in ACADVL occurs within the canonical splice donor/acceptor site (+/- 1,2) of intron 12. It is predicted to cause skipping of biologically-relevant-exon 12/20, resulting in an in-frame deletion (removes amino acids 395-423) that is predicted to escape nonsense mediated decay and remove <10% of the protein (PVS1_Moderate). To our knowledge, this variant has not been reported in an individual affected with very long chain acyl CoA dehydrogenase (VLCAD) deficiency. To our knowledge, no functional studies have been performed on this variant. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as a variant of uncertain significance for autosomal recessive VLCAD deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: PVS1_Moderate, PM2_Supporting (VCEP specifications version1; approved November 8, 2021)