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.869dup (p.Ile291fs)

CA10607042

291163 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 54e6b682-10a0-4599-9744-2f4d49ae02d4

HGVS expressions

NM_000018.4:c.869dup

NM_000018.4(ACADVL):c.869dup (p.Ile291fs)

NC_000017.11:g.7222293dup

CM000679.2:g.7222293dup

NC_000017.10:g.7125612dup

CM000679.1:g.7125612dup

NC_000017.9:g.7066336dup

NG_007975.1:g.7460dup

NG_008391.2:g.2762dup

ENST00000356839.10:c.869dup

ENST00000322910.9:c.*824dup

ENST00000350303.9:c.803dup

ENST00000356839.9:c.869dup

ENST00000543245.6:c.938dup

ENST00000577191.5:n.1041dup

ENST00000581378.5:n.587dup

ENST00000582379.1:n.253dup

NM_000018.3:c.869dup

NM_001033859.2:c.803dup

NM_001270447.1:c.938dup

NM_001270448.1:c.641dup

NM_001033859.3:c.803dup

NM_001270447.2:c.938dup

NM_001270448.2:c.641dup

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.869dup (p.Ile291HisfsTer7) variant in ACADVL results in a frameshift predicted to cause a premature stop codon in biologically relevant exon 9/20 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 population database v2.1.1 (PM2_Supporting). This variant has also been in a patient with Very long chain acyl-coA dehydrogenase deficiency (VLCADD) (PMID:26385305). The ACADVL Variant Curation Expert Panel VCEP classified the variant as likely pathogenic based on (PVS1+PM2_supporting).

PVS1

frameshift in exon 9/20

PM2_Supporting

Absent from gnomAD

PP4

2 allelels in Miller et al.

Approved on: 2023-06-27

Published on: 2023-06-27

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