Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter)

CA397722699

932735 (ClinVar)

Gene: ACADVL (HGNC:37)

Condition: very long chain acyl-CoA dehydrogenase deficiency (MONDO:0008723)

Inheritance Mode: Autosomal recessive inheritance

UUID: b9dc6fa8-3d91-4c82-9bcd-b5e8f5b06807

Approved on: 2024-02-27

Published on: 2024-02-27

HGVS expressions

NM_000018.4:c.343G>T

NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter)

NC_000017.11:g.7220924G>T

CM000679.2:g.7220924G>T

NC_000017.10:g.7124243G>T

CM000679.1:g.7124243G>T

NC_000017.9:g.7064967G>T

NG_007975.1:g.6091G>T

NG_008391.2:g.4127C>A

ENST00000356839.10:c.343G>T

ENST00000322910.9:c.*298G>T

ENST00000350303.9:c.277G>T

ENST00000356839.9:c.343G>T

ENST00000543245.6:c.412G>T

ENST00000577191.5:n.420G>T

ENST00000577433.5:n.551G>T

ENST00000577857.5:n.293+94G>T

ENST00000579286.5:n.524G>T

ENST00000579886.2:c.202-21G>T

ENST00000580365.1:n.74G>T

ENST00000581378.5:c.42G>T

ENST00000581562.5:n.390G>T

ENST00000582056.5:n.526G>T

ENST00000582166.1:n.324G>T

ENST00000583312.5:c.343G>T

ENST00000584103.5:c.376G>T

NM_000018.3:c.343G>T

NM_001033859.2:c.277G>T

NM_001270447.1:c.412G>T

NM_001270448.1:c.115G>T

NM_001033859.3:c.277G>T

NM_001270447.2:c.412G>T

NM_001270448.2:c.115G>T

Likely Pathogenic

PM2_Supporting PVS1

PP4

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The NM_000018.4(ACADVL): c.343G>T (p.Glu115Ter) variant in ACADVL is a nonsense variant predicted to cause a premature stop codon in biologically relevant exon 6/20 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). To our knowledge, this variant has not been reported in the literature in any individuals with VLCADD. 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). This variant was originally curated November 16, 2021 and the recurated classification was approved by the expert panel on February 27, 2024.

PM2_Supporting

Absent from gnomAD

PVS1

Truncating exon 6/20

PP4

Not found in the literature

Curation History

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