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.428_467del (p.Gly143fs)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA8337697

422995 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 30e50c2c-b11c-49de-859d-81c32c9f8a03

Approved on: 2022-09-20

Published on: 2022-09-20

HGVS expressions

NM_000018.4:c.428_467del

NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)

NC_000017.11:g.7221009_7221048del

CM000679.2:g.7221009_7221048del

NC_000017.10:g.7124328_7124367del

CM000679.1:g.7124328_7124367del

NC_000017.9:g.7065052_7065091del

NG_007975.1:g.6176_6215del

NG_008391.2:g.4012_4051del

ENST00000356839.10:c.428_467del

ENST00000322910.9:c.*383_*422del

ENST00000350303.9:c.362_401del

ENST00000356839.9:c.428_467del

ENST00000543245.6:c.497_536del

ENST00000577191.5:n.505_544del

ENST00000577433.5:n.636_675del

ENST00000577857.5:n.293+179_293+218del

ENST00000579286.5:n.609_648del

ENST00000579886.2:c.266_305del

ENST00000580365.1:n.159_198del

ENST00000581378.5:n.127_166del

ENST00000581562.5:n.475_514del

ENST00000582056.5:n.611_650del

ENST00000582166.1:n.409_448del

ENST00000583312.5:c.428_467del

NM_000018.3:c.428_467del

NM_001033859.2:c.362_401del

NM_001270447.1:c.497_536del

NM_001270448.1:c.200_239del

NM_001033859.3:c.362_401del

NM_001270447.2:c.497_536del

NM_001270448.2:c.200_239del

Pathogenic

PVS1 PP4 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 c.428_467del; p.Gly143AlafsTer61 variant in ACADVL results in a frameshift predicted to cause a premature stop codon in biologically relevant exon 6/20 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 reported once in a heterozygote patient with Very long chain acyl-coA dehydrogenase deficiency (VLCADD) (PP4, PMID:26385305). The ACADVL Variant Curation Expert Panel VCEP classified the variant as pathogenic based on (PVS1+PM2_supporting, PP4).

PVS1

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

PP4

Reported as a heterozygote in one patient with VLCADD

PM2_Supporting

Absent from gnomAD

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.