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]
Link to SEPIO compliant JSON-LD document
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC related information was provided by the message!
  • No CSPEC computer assertion could be determined for this classification!
  • See Evidence submitted by expert panel for details.

Variant: NM_000018.4(ACADVL):c.996dup (p.Ala333fs)

CA16041865

370886 (ClinVar)

Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 051bac67-db1d-43c7-beb3-7e66bf330b4e
Approved on: 2024-05-14
Published on: 2024-05-16

HGVS expressions

NM_000018.4:c.996dup
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)
NC_000017.11:g.7222784dup
CM000679.2:g.7222784dup
NC_000017.10:g.7126103dup
CM000679.1:g.7126103dup
NC_000017.9:g.7066827dup
NG_007975.1:g.7951dup
NG_008391.2:g.2268dup
ENST00000356839.10:c.996dup
ENST00000322910.9:c.*951dup
ENST00000350303.9:c.930dup
ENST00000356839.9:c.996dup
ENST00000543245.6:c.1065dup
ENST00000578824.5:n.145dup
ENST00000581378.5:c.714dup
ENST00000582379.1:n.380dup
ENST00000583858.5:c.25dup
NM_000018.3:c.996dup
NM_001033859.2:c.930dup
NM_001270447.1:c.1065dup
NM_001270448.1:c.768dup
NM_001033859.3:c.930dup
NM_001270447.2:c.1065dup
NM_001270448.2:c.768dup

Likely Pathogenic

Met criteria codes 2
PM2_Supporting PVS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
ACADVL VCEP
The c.996dup (p.Ala333fs)(NM_000018.3) 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; PMIDs 9973285, 11590124). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). At least one individual with this variant was identified, but this information is insufficient to use toward classification (PMID: 25242572). The ACADVL Variant Curation Expert Panel VCEP classified the variant as likely pathogenic based on PVS1+PM2_supporting (ACADVL VCEP specifications version 1; approved November 9, 2021).
Met criteria codes
PM2_Supporting
variant is absent from gnomAD v2.1.1
PVS1
premature stop codon 10/20
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