Variant: NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)

CA397724799

660424 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

UUID: aefbe0b4-5218-4071-843d-db50e027f174

Approved on: 2023-03-27

Published on: 2023-03-27

HGVS expressions

NM_000018.4:c.1294G>T
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)
NC_000017.11:g.7223837G>T
CM000679.2:g.7223837G>T
NC_000017.10:g.7127156G>T
CM000679.1:g.7127156G>T
NC_000017.9:g.7067880G>T
NG_007975.1:g.9004G>T
NG_008391.2:g.1214C>A
NG_033038.1:g.15708C>A
ENST00000356839.10:c.1294G>T
ENST00000322910.9:c.*1249G>T
ENST00000350303.9:c.1228G>T
ENST00000356839.9:c.1294G>T
ENST00000542255.6:n.152G>T
ENST00000543245.6:c.1363G>T
ENST00000578711.1:n.333G>T
ENST00000578824.5:n.710G>T
ENST00000579425.5:n.318G>T
ENST00000579546.1:n.131G>T
ENST00000583074.5:n.13G>T
ENST00000583850.5:n.69G>T
ENST00000583858.5:n.323G>T
ENST00000585203.6:n.502G>T
NM_000018.3:c.1294G>T
NM_001033859.2:c.1228G>T
NM_001270447.1:c.1363G>T
NM_001270448.1:c.1066G>T
NM_001033859.3:c.1228G>T
NM_001270447.2:c.1363G>T
NM_001270448.2:c.1066G>T

Likely Pathogenic

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

• Met criteria codes: PM2_Supporting PVS1

Expert Panel

ACADVL VCEP

Criteria Specification Information

Evidence submitted by expert panel

ACADVL VCEP

The NM_000018.4(ACADVL);c.1294G>T(p.Glu432Ter) variant in ACADVL is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 13 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). 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.

Met criteria codes

• PM2_Supporting: This variant is absent from gnomAD v2.1.1 (PM2_Supporting).
• PVS1: The NM_000018.4(ACADVL);c.1294G>T(p.Glu432Ter) variant in ACADVL is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 13 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs 9973285, 11590124).