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.155C>G (p.Ser52Ter)

CA397722206

932733 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 57ef8ecb-928b-457b-8601-645990723c39

HGVS expressions

NM_000018.4:c.155C>G

NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter)

NC_000017.11:g.7220480C>G

CM000679.2:g.7220480C>G

NC_000017.10:g.7123799C>G

CM000679.1:g.7123799C>G

NC_000017.9:g.7064523C>G

NG_007975.1:g.5647C>G

NG_008391.2:g.4571G>C

ENST00000356839.10:c.155C>G

ENST00000322910.9:c.*110C>G

ENST00000350303.9:c.139-124C>G

ENST00000356839.9:c.155C>G

ENST00000543245.6:c.224C>G

ENST00000577191.5:n.232C>G

ENST00000577433.5:n.289C>G

ENST00000577857.5:n.228+283C>G

ENST00000578269.5:n.528C>G

ENST00000578421.1:n.289C>G

ENST00000579286.5:n.262C>G

ENST00000579886.2:c.155C>G

ENST00000580263.5:n.245C>G

ENST00000581562.5:n.202C>G

ENST00000582056.5:n.245C>G

ENST00000582166.1:n.43C>G

ENST00000582356.5:n.280C>G

ENST00000583312.5:c.155C>G

ENST00000584103.5:c.155C>G

NM_000018.3:c.155C>G

NM_001033859.2:c.139-124C>G

NM_001270447.1:c.224C>G

NM_001270448.1:c.-74C>G

NM_001033859.3:c.139-124C>G

NM_001270447.2:c.224C>G

NM_001270448.2:c.-74C>G

Likely Pathogenic

PM2_Supporting PVS1

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.155C>G (p.Ser52Ter) variant in ACADVL is a nonsense 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, functional assays have not been reported for this variant nor has the variant been reported in the literature in any individuals with VLCADD. In summary, this variant meets the criteria to be classified as likely pathogenic for autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: PVS1, PM2_Supporting (ACADVL VCEP specifications version 1; approved November 9, 2021). This variant was originally curated November 9, 2021 and the recurated classification was approved by the expert panel on February 27, 2024.

PM2_Supporting

Absent from gnomAD

PVS1

Creates a nonsense at codon 52

PP4

No literature found

Approved on: 2024-02-27

Published on: 2024-02-27

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