Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No CSPEC related information was provided by the message!
  • No Criteria Specification was provided in the publication event for the variant classifaction.
  • The Criteria Specification shown below is a best-estimate based on the VCEP, gene, disease, and publication date.

Variant: NM_000018.4(ACADVL):c.797_798del (p.Pro266fs)

CA1139665143

932845 (ClinVar)

Gene: ACADVL (HGNC:37)
Condition: very long chain acyl-CoA dehydrogenase deficiency (MONDO:0008723)
Inheritance Mode: Autosomal recessive inheritance
UUID: b0b0b1e6-86e9-4a5c-b8b9-d5a64083b3fb
Approved on: 2023-01-10
Published on: 2023-01-10

HGVS expressions

NM_000018.4(ACADVL):c.797_798del (p.Pro266fs)
NM_000018.4:c.797_798del
NC_000017.11:g.7222221_7222222del
CM000679.2:g.7222221_7222222del
NC_000017.10:g.7125540_7125541del
CM000679.1:g.7125540_7125541del
NC_000017.9:g.7066264_7066265del
NG_007975.1:g.7388_7389del
NG_008391.2:g.2829_2830del
ENST00000356839.10:c.797_798del
ENST00000322910.9:c.*752_*753del
ENST00000350303.9:c.731_732del
ENST00000356839.9:c.797_798del
ENST00000543245.6:c.866_867del
ENST00000577191.5:n.969_970del
ENST00000581378.5:n.515_516del
ENST00000582379.1:n.181_182del
NM_000018.3:c.797_798del
NM_001033859.2:c.731_732del
NM_001270447.1:c.866_867del
NM_001270448.1:c.569_570del
NM_001033859.3:c.731_732del
NM_001270447.2:c.866_867del
NM_001270448.2:c.569_570del
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Likely Pathogenic

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"
Met criteria codes 2
PM2_Supporting PVS1
Not Met criteria codes 1
PP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
ACADVL VCEP
The NM_000018.4: c.797_798del (p.Pro266ArgfsTer31) variant in ACADVL is a frameshift variant 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). 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 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 November 8, 2021).
Met criteria codes
PM2_Supporting
This variant is absent from gnomAD v2.1.1 (PM2_supporting).
PVS1
The NM_000018.4: c.797_798del (p.Pro266ArgfsTer31) variant in ACADVL is a frameshift variant 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).
Not Met criteria codes
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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