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.1818G>A (p.Trp606Ter)

CA397725955

932836 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: c81e9cbb-091f-4bd8-8799-a865c5999243

HGVS expressions

NM_000018.4:c.1818G>A

NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter)

NC_000017.11:g.7224875G>A

CM000679.2:g.7224875G>A

NC_000017.10:g.7128194G>A

CM000679.1:g.7128194G>A

NC_000017.9:g.7068918G>A

NG_007975.1:g.10042G>A

NG_008391.2:g.176C>T

NG_033038.1:g.14670C>T

ENST00000356839.10:c.1818G>A

ENST00000322910.9:c.*1773G>A

ENST00000350303.9:c.1752G>A

ENST00000356839.9:c.1818G>A

ENST00000542255.6:n.697G>A

ENST00000543245.6:c.1887G>A

ENST00000578033.1:n.243G>A

ENST00000578319.5:n.399G>A

ENST00000578711.1:n.1371G>A

ENST00000578809.5:n.390G>A

ENST00000579425.5:n.934G>A

ENST00000579546.1:n.553G>A

ENST00000583848.5:n.184G>A

ENST00000583850.5:n.589G>A

ENST00000583858.5:n.749G>A

NM_000018.3:c.1818G>A

NM_001033859.2:c.1752G>A

NM_001270447.1:c.1887G>A

NM_001270448.1:c.1590G>A

NM_001033859.3:c.1752G>A

NM_001270447.2:c.1887G>A

NM_001270448.2:c.1590G>A

Uncertain Significance

PVS1_Moderate PM2_Supporting

PP4

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.1818G>A (p.Trp606Ter) variant in ACADVL is a nonsense variant that may cause loss of function of the protein, however it is predicted to escape nonsense mediated decay and remove <10% of the protein (PVS1_Moderate). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). This variant has been reported once as a result of a positive newborn screening for VLCADD (PMID:26385305). The ACADVL Variant Curation Expert Panel VCEP classified the variant as VUS based on PVS1_Moderate+PM2_supporting.

PVS1_Moderate

Within last 50 bases of exon 19 (of 20)

PM2_Supporting

Absent from gnomAD

PP4

Reported in one patient (Miller et al.)

Approved on: 2023-06-27

Published on: 2023-06-27

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