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.1839G>A (p.Arg613=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA8338296

254698 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 83a8c832-a9c6-499c-9556-dc51ea0866e5

Approved on: 2025-04-22

Published on: 2025-04-25

HGVS expressions

NM_000018.4:c.1839G>A

NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)

NC_000017.11:g.7224968G>A

CM000679.2:g.7224968G>A

NC_000017.10:g.7128287G>A

CM000679.1:g.7128287G>A

NC_000017.9:g.7069011G>A

NG_007975.1:g.10135G>A

NG_008391.2:g.83C>T

NG_033038.1:g.14577C>T

ENST00000356839.10:c.1839G>A

ENST00000322910.9:c.*1794G>A

ENST00000350303.9:c.1773G>A

ENST00000356839.9:c.1839G>A

ENST00000542255.6:c.718G>A

ENST00000543245.6:c.1908G>A

ENST00000578033.1:n.264G>A

ENST00000578319.5:n.420G>A

ENST00000578711.1:n.1464G>A

ENST00000578809.5:n.411G>A

ENST00000579425.5:n.955G>A

ENST00000579546.1:c.574G>A

ENST00000583848.5:c.205G>A

ENST00000583850.5:n.610G>A

ENST00000583858.5:c.770G>A

NM_000018.3:c.1839G>A

NM_001033859.2:c.1773G>A

NM_001270447.1:c.1908G>A

NM_001270448.1:c.1611G>A

NM_001033859.3:c.1773G>A

NM_001270447.2:c.1908G>A

NM_001270448.2:c.1611G>A

Likely Benign

BP7 BP4 PM2

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specification: ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.1839G>A p.(Arg613=) variant is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by PhyloP100way (conservation score: 0.95) (BP4, BP7). The highest population minor allele frequency in gnomAD v2.1.1 is 0.008134 in African/African American population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting; however, this is not considered conflicting evidence with BP4 and BP7. To our knowledge, this variant has not been reported in the literature in any individuals with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency. In summary, this variant meets the criteria to be classified as likely 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: BP4, BP7, PM2_Supporting (ACADVL VCEP specifications version 1; approved November 9, 2021).

BP7

BP4

PM2

The highest population minor allele frequency in gnomAD v2.1.1 is 0.008134 in African/African American population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting).

Curation History

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