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.428_467del (p.Gly143fs)

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

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