Variant: NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)

CA397723589

932843 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

UUID: 1c0191f6-9e29-4ea4-a3f2-0921567f0c5b

Approved on: 2024-05-14

Published on: 2024-05-16

HGVS expressions

NM_000018.4:c.746G>A
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)
NC_000017.11:g.7222075G>A
CM000679.2:g.7222075G>A
NC_000017.10:g.7125394G>A
CM000679.1:g.7125394G>A
NC_000017.9:g.7066118G>A
NG_007975.1:g.7242G>A
NG_008391.2:g.2976C>T
ENST00000356839.10:c.746G>A
ENST00000322910.9:c.*701G>A
ENST00000350303.9:c.680G>A
ENST00000356839.9:c.746G>A
ENST00000543245.6:c.815G>A
ENST00000577191.5:n.823G>A
ENST00000577857.5:n.562G>A
ENST00000579286.5:n.927G>A
ENST00000580365.1:n.477G>A
ENST00000581378.5:c.464G>A
ENST00000582379.1:n.130G>A
ENST00000583760.1:n.528G>A
NM_000018.3:c.746G>A
NM_001033859.2:c.680G>A
NM_001270447.1:c.815G>A
NM_001270448.1:c.518G>A
NM_001033859.3:c.680G>A
NM_001270447.2:c.815G>A
NM_001270448.2:c.518G>A

Likely Pathogenic

• Met criteria codes: PVS1 PM2_Supporting

Expert Panel

ACADVL VCEP

Criteria Specification Information

Evidence submitted by expert panel

ACADVL VCEP

The c.746G>A (p.Trp249Ter) NM_000018.3 variant in ACADVL is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 8/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs 9973285, 11590124). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). The ACADVL Variant Curation Expert Panel VCEP classified the variant as likely pathogenic based on PVS1+PM2_supporting (ACADVL VCEP specifications version 1; approved November 9, 2021).

Met criteria codes

• PVS1: premature stop codon in biologically-relevant-exon 8
• PM2_Supporting: absent from gnomAD v2.1.1