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.881_884dup (p.Pro296fs)

CA8337899

371464 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 44973038-39f3-43ad-a2ba-60375c1105bc

HGVS expressions

NM_000018.4:c.881_884dup

NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)

NC_000017.11:g.7222669_7222672dup

CM000679.2:g.7222669_7222672dup

NC_000017.10:g.7125988_7125991dup

CM000679.1:g.7125988_7125991dup

NC_000017.9:g.7066712_7066715dup

NG_007975.1:g.7836_7839dup

NG_008391.2:g.2379_2382dup

ENST00000356839.10:c.881_884dup

ENST00000322910.9:c.*836_*839dup

ENST00000350303.9:c.815_818dup

ENST00000356839.9:c.881_884dup

ENST00000543245.6:c.950_953dup

ENST00000578824.5:n.30_33dup

ENST00000581378.5:n.599_602dup

ENST00000582379.1:n.265_268dup

NM_000018.3:c.881_884dup

NM_001033859.2:c.815_818dup

NM_001270447.1:c.950_953dup

NM_001270448.1:c.653_656dup

NM_001033859.3:c.815_818dup

NM_001270447.2:c.950_953dup

NM_001270448.2:c.653_656dup

Likely Pathogenic

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

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_000152.5: c.881_884dup (p.Pro296AlafsTer3) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically relevant exon 10/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00009 in the Latino population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting, meeting this criterion (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. (ACADVL VCEP specifications version 1; approved February 28, 2023)

PVS1

frameshift in exon 10 of 20

PM2_Supporting

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Approved on: 2023-02-28

Published on: 2023-02-28

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