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.1882del (p.Gln628fs)

CA497694556

811520 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 9532f4ad-4553-4e1d-9df7-7e8659123e09

Approved on: 2023-06-27

Published on: 2023-06-27

HGVS expressions

NM_000018.4:c.1882del

NM_000018.4(ACADVL):c.1882del (p.Gln628fs)

NC_000017.11:g.7225011del

CM000679.2:g.7225011del

NC_000017.10:g.7128330del

CM000679.1:g.7128330del

NC_000017.9:g.7069054del

NG_007975.1:g.10178del

NG_008391.2:g.40del

NG_033038.1:g.14534del

ENST00000356839.10:c.1882del

ENST00000322910.9:c.*1837del

ENST00000350303.9:c.1816del

ENST00000356839.9:c.1882del

ENST00000542255.6:n.761del

ENST00000543245.6:c.1951del

ENST00000578033.1:n.307del

ENST00000578319.5:n.463del

ENST00000578711.1:n.1507del

ENST00000578809.5:n.454del

ENST00000579425.5:n.998del

ENST00000583848.5:n.248del

ENST00000583850.5:n.653del

ENST00000583858.5:n.813del

NM_000018.3:c.1882del

NM_001033859.2:c.1816del

NM_001270447.1:c.1951del

NM_001270448.1:c.1654del

NM_001033859.3:c.1816del

NM_001270447.2:c.1951del

NM_001270448.2:c.1654del

Uncertain Significance

PVS1_Moderate PM2_Supporting

PM4 PM1

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.1882del (p.Gln628LysfsTer52) variant in ACADVL is a frameshift in the last exon of a gene in which loss-of-function is an established disease mechanism (PVS1_moderate: PMIDs 9973285, 11590124). While this may not lead to nonsense-mediated decay, this variant is predicted to replace the final 28 conserved amino acids in ACADVL with functional significance (PMID: 18227065). This variant is also absent from gnomAD v2.1.1 (PM2_Supporting). The ACADVL Variant Curation Expert Panel VCEP classified the variant as VUS based on PVS1_moderate+PM2_supporting.

PVS1_Moderate

Last exon 20 of 20

PM2_Supporting

Absent from gnomAD

PM4

Predicted to replace the C-terminal 28 amino acids. Not to be used with PVS1_moderate.

PM1

Not using with PVS1_moderate

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