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.1730_1733dup (p.Met578fs)

CA1139665160

932176 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 7e7b5fc3-5fa9-4432-8035-86d62dff90c3

Approved on: 2023-03-27

Published on: 2023-03-27

HGVS expressions

NM_000018.4:c.1730_1733dup

NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)

NC_000017.11:g.7224693_7224696dup

CM000679.2:g.7224693_7224696dup

NC_000017.10:g.7128012_7128015dup

CM000679.1:g.7128012_7128015dup

NC_000017.9:g.7068736_7068739dup

NG_007975.1:g.9860_9863dup

NG_008391.2:g.355_358dup

NG_033038.1:g.14849_14852dup

ENST00000356839.10:c.1730_1733dup

ENST00000322910.9:c.*1685_*1688dup

ENST00000350303.9:c.1664_1667dup

ENST00000356839.9:c.1730_1733dup

ENST00000542255.6:n.537-22_537-19dup

ENST00000543245.6:c.1799_1802dup

ENST00000578033.1:n.61_64dup

ENST00000578319.5:n.311_314dup

ENST00000578711.1:n.1189_1192dup

ENST00000578809.5:n.302_305dup

ENST00000579425.5:n.846_849dup

ENST00000579546.1:n.465_468dup

ENST00000583074.5:n.300-22_300-19dup

ENST00000583848.5:n.96_99dup

ENST00000583850.5:n.501_504dup

ENST00000583858.5:n.661_664dup

ENST00000585203.6:n.921_924dup

NM_000018.3:c.1730_1733dup

NM_001033859.2:c.1664_1667dup

NM_001270447.1:c.1799_1802dup

NM_001270448.1:c.1502_1505dup

NM_001033859.3:c.1664_1667dup

NM_001270447.2:c.1799_1802dup

NM_001270448.2:c.1502_1505dup

Likely Pathogenic

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

PM2_Supporting PVS1

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

NM_000018.4(ACADVL): c.1730_1733dup (p.Met578Ilefs*15) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 18 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs 9973285, 11590124). At least one individual with this variant was identified by newborn screen, but this information is insufficient for to use toward classification (PMID: 26385305). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). 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.

PM2_Supporting

This variant is absent from gnomAD v2.1.1 (PM2_Supporting).

PVS1

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.