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]

Variant: NM_000018.4(ACADVL):c.192dup (p.Pro65fs)

Curation Version - 1.1
Curation History
JSON LD for Version 1.1

CA287434246

569888 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: f0329f80-bac0-4ee9-8788-32f7b5dbe024

Approved on: 2024-02-27

Published on: 2024-02-27

HGVS expressions

NM_000018.4:c.192dup

NM_000018.4(ACADVL):c.192dup (p.Pro65fs)

NC_000017.11:g.7220517dup

CM000679.2:g.7220517dup

NC_000017.10:g.7123836dup

CM000679.1:g.7123836dup

NC_000017.9:g.7064560dup

NG_007975.1:g.5684dup

NG_008391.2:g.4539dup

ENST00000356839.10:c.192dup

ENST00000322910.9:c.*147dup

ENST00000350303.9:c.139-87dup

ENST00000356839.9:c.192dup

ENST00000543245.6:c.261dup

ENST00000577191.5:n.269dup

ENST00000577433.5:n.326dup

ENST00000577857.5:n.229-249dup

ENST00000578269.5:n.565dup

ENST00000578421.1:n.326dup

ENST00000579286.5:n.299dup

ENST00000579886.2:c.192dup

ENST00000580263.5:n.282dup

ENST00000581562.5:n.239dup

ENST00000582056.5:n.282dup

ENST00000582166.1:n.80dup

ENST00000582356.5:n.317dup

ENST00000583312.5:c.192dup

ENST00000584103.5:c.192dup

NM_000018.3:c.192dup

NM_001033859.2:c.139-87dup

NM_001270447.1:c.261dup

NM_001270448.1:c.-37dup

NM_001033859.3:c.139-87dup

NM_001270447.2:c.261dup

NM_001270448.2:c.-37dup

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 NM_000018.4(ACADVL):c.192dup (p.Pro65Thrfs*7) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically relevant exon 3/20 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). To our knowledge, this variant has not been reported in the literature in any individuals with VLCADD. 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). This variant was originally curated November 12, 2021 and the recurated classification was approved by the expert panel on February 27, 2024.

PVS1

Truncating exon 3/20

PM2_Supporting

Absent from gnomAD

PP4

No literature found for this variant.

Curation History

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