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.1309A>G (p.Met437Val)

CA397724835

932842 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 1449e0fc-066c-4845-8b12-d666c2dd0409

HGVS expressions

NM_000018.4:c.1309A>G

NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)

NC_000017.11:g.7223852A>G

CM000679.2:g.7223852A>G

NC_000017.10:g.7127171A>G

CM000679.1:g.7127171A>G

NC_000017.9:g.7067895A>G

NG_007975.1:g.9019A>G

NG_008391.2:g.1199T>C

NG_033038.1:g.15693T>C

ENST00000356839.10:c.1309A>G

ENST00000322910.9:c.*1264A>G

ENST00000350303.9:c.1243A>G

ENST00000356839.9:c.1309A>G

ENST00000542255.6:n.167A>G

ENST00000543245.6:c.1378A>G

ENST00000578711.1:n.348A>G

ENST00000579425.5:n.333A>G

ENST00000579546.1:n.146A>G

ENST00000583074.5:n.28A>G

ENST00000583850.5:n.84A>G

ENST00000583858.5:n.338A>G

ENST00000585203.6:n.517A>G

NM_000018.3:c.1309A>G

NM_001033859.2:c.1243A>G

NM_001270447.1:c.1378A>G

NM_001270448.1:c.1081A>G

NM_001033859.3:c.1243A>G

NM_001270447.2:c.1378A>G

NM_001270448.2:c.1081A>G

Uncertain Significance

PS3_Supporting PM2_Supporting

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.1309A>G(p.Met437Val) variant in ACADVL is a missense variant predicted to cause substitution of methionine by valine at amino acid 437 (p.Met437Val). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). VLCAD activity and protein expression assays in transfected patient fibroblasts showed marked reductions indicating that this variant impacts protein function (PMID 11914034, PS3_Supporting). Due to limited evidence, this variant is classified as a variant of uncertain significance for autosomal recessive VLCAD deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: PM2_Supporting, PS3_Supporting.

PS3_Supporting

VLCAD activity and protein expression assays in transfected patient fibroblasts showed marked reductions indicating that this variant impacts protein function (PMID 11914034, PS3_Supporting).

PM2_Supporting

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

Approved on: 2023-03-27

Published on: 2023-03-27

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