The NM_000018.4:c.105_109dup (p.Arg37LeufsTer26) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 2/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant is absent from GnomAD v2.1.1 (PM2_Supporting). At least one individual with this variant was identified by newborn screen, but this information is insufficient to use toward classification (PMID: 26385305). In summary, this variant meets the criteria to be classified as Likely pathogenic for autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: PVS1, PM2_supporting (ACADVL VCEP specifications version 1; approved November 9, 2021).