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]

Variant: NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA341524

21023 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 038283e9-ea63-4bf8-82f7-d0b03faebaad

Approved on: 2022-03-08

Published on: 2022-03-08

HGVS expressions

NM_000018.4:c.68G>A

NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)

NC_000017.11:g.7220127G>A

CM000679.2:g.7220127G>A

NC_000017.10:g.7123446G>A

CM000679.1:g.7123446G>A

NC_000017.9:g.7064170G>A

NG_007975.1:g.5294G>A

NG_008391.2:g.4924C>T

ENST00000356839.10:c.68G>A

ENST00000322910.9:c.*23G>A

ENST00000350303.9:c.68G>A

ENST00000356839.9:c.68G>A

ENST00000543245.6:c.137G>A

ENST00000577191.5:n.145G>A

ENST00000577857.5:n.158G>A

ENST00000578269.5:n.175G>A

ENST00000578421.1:n.202G>A

ENST00000579286.5:n.175G>A

ENST00000579886.2:c.68G>A

ENST00000580263.5:n.158G>A

ENST00000581562.5:n.115G>A

ENST00000582056.5:n.158G>A

ENST00000582356.5:n.193G>A

ENST00000583312.5:c.68G>A

ENST00000584103.5:c.68G>A

NM_000018.3:c.68G>A

NM_001033859.2:c.68G>A

NM_001270447.1:c.137G>A

NM_001270448.1:c.-161G>A

NM_001033859.3:c.68G>A

NM_001270447.2:c.137G>A

NM_001270448.2:c.-161G>A

Benign

BA1 BP4

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.68G>A variant in ACADVL is a missense variant predicted to cause the substitution of arginine by glutamine at amino acid 23 (p.Arg23Gln). The highest population minor allele frequency in gnomAD v2.1.1 is 0.01223 in the Latino population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.007) for BA1, and therefore meets this criterion (BA1). The computational predictor REVEL gives a score of 0.123, which is below the threshold of 0.5, evidence that does not predict a damaging effect on ACADVL function (BP4). In summary, this variant meets the criteria to be classified as benign 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: BA1, BP4 (VCEP specifications v2.0, approved on 09/16/2021).

BA1

gnomAD Frequency of 0.01223 in the Latino population with 2 homozygotes

BP4

REVEL score of 0.123

Curation History

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