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]

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Variant: NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)

CA397723428

932737 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 41c583e0-d55b-47eb-91d4-a99519e3a950

HGVS expressions

NM_000018.4:c.668C>G

NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)

NC_000017.11:g.7221997C>G

CM000679.2:g.7221997C>G

NC_000017.10:g.7125316C>G

CM000679.1:g.7125316C>G

NC_000017.9:g.7066040C>G

NG_007975.1:g.7164C>G

NG_008391.2:g.3054G>C

ENST00000356839.10:c.668C>G

ENST00000322910.9:c.*623C>G

ENST00000350303.9:c.602C>G

ENST00000356839.9:c.668C>G

ENST00000543245.6:c.737C>G

ENST00000577191.5:n.745C>G

ENST00000577857.5:n.484C>G

ENST00000579286.5:n.849C>G

ENST00000580365.1:n.399C>G

ENST00000581378.5:c.386C>G

ENST00000581562.5:n.570C>G

ENST00000582379.1:n.52C>G

ENST00000583760.1:n.450C>G

NM_000018.3:c.668C>G

NM_001033859.2:c.602C>G

NM_001270447.1:c.737C>G

NM_001270448.1:c.440C>G

NM_001033859.3:c.602C>G

NM_001270447.2:c.737C>G

NM_001270448.2:c.440C>G

Likely Pathogenic

PVS1 PM2_Supporting

PP4

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.668C>G ( p.Ser223Ter)(NM_000018.4) 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). At least one individual with this variant was identified by newborn screen, but this information is insufficient to use toward classification (PMID: 26385305). 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_Suporting (ACADVL VCEP specifications version 1; approved November 9, 2021).

PVS1

PM2_Supporting

This variant is absent from gnomAD v2.1.1 (PM2_Supporting).

PP4

At least one individual with this variant was identified by newborn screen, but this information is insufficient to use toward classification (PMID: 26385305).

Approved on: 2023-09-26

Published on: 2023-09-26

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