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]

Link to SEPIO compliant JSON-LD document

Variant: NM_000018.4(ACADVL):c.864del (p.Phe288fs)

CA658798685

522433 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: d6272d28-2737-4d6f-8525-d0991a0668e0

HGVS expressions

NM_000018.4:c.864del

NM_000018.4(ACADVL):c.864del (p.Phe288fs)

NC_000017.11:g.7222288del

CM000679.2:g.7222288del

NC_000017.10:g.7125607del

CM000679.1:g.7125607del

NC_000017.9:g.7066331del

NG_007975.1:g.7455del

NG_008391.2:g.2763del

ENST00000356839.10:c.864del

ENST00000322910.9:c.*819del

ENST00000350303.9:c.798del

ENST00000356839.9:c.864del

ENST00000543245.6:c.933del

ENST00000577191.5:n.1036del

ENST00000581378.5:c.582del

ENST00000582379.1:n.248del

NM_000018.3:c.864del

NM_001033859.2:c.798del

NM_001270447.1:c.933del

NM_001270448.1:c.636del

NM_001033859.3:c.798del

NM_001270447.2:c.933del

NM_001270448.2:c.636del

Likely Pathogenic

PVS1 PM2_Supporting

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.864del (p.Phe288Leufs*65) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 10 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_Suporting (ACADVL VCEP specifications version 1; approved November 9, 2021).

PVS1

PM2_Supporting

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

Approved on: 2023-09-26

Published on: 2023-09-26

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