Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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Variant: NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)

CA341522

21022 (ClinVar)

Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 8cb4ff32-8a03-4e0b-a3f1-75c3222ef92b
Approved on: 2022-09-22
Published on: 2022-09-22

HGVS expressions

NM_000018.4:c.49C>T
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)
NC_000017.11:g.7220033C>T
CM000679.2:g.7220033C>T
NC_000017.10:g.7123352C>T
CM000679.1:g.7123352C>T
NC_000017.9:g.7064076C>T
NG_007975.1:g.5200C>T
NG_008391.2:g.5018G>A
ENST00000356839.10:c.49C>T
ENST00000322910.9:c.49C>T
ENST00000350303.9:c.49C>T
ENST00000356839.9:c.49C>T
ENST00000543245.6:c.132-89C>T
ENST00000577191.5:n.126C>T
ENST00000577857.5:n.139C>T
ENST00000578269.5:n.156C>T
ENST00000578421.1:n.108C>T
ENST00000579286.5:n.156C>T
ENST00000579886.2:c.49C>T
ENST00000580263.5:n.139C>T
ENST00000581562.5:n.96C>T
ENST00000582056.5:n.139C>T
ENST00000582356.5:n.174C>T
ENST00000583312.5:c.49C>T
ENST00000584103.5:c.49C>T
NM_000018.3:c.49C>T
NM_001033859.2:c.49C>T
NM_001270447.1:c.132-89C>T
NM_001270448.1:c.-255C>T
NM_001365.3:c.-1184G>A
NM_001321074.1:c.-1184G>A
NM_001365.4:c.-1184G>A
NR_135527.1:n.18G>A
NM_001033859.3:c.49C>T
NM_001270447.2:c.132-89C>T
NM_001270448.2:c.-255C>T
More

Benign

Met criteria codes 2
BP4 BA1
Not Met criteria codes 3
BS2 PP4 PM1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
ACADVL VCEP
The c.49C>T variant in ACADVL has been reported as part of premature screening panels, however no probands have shown increased VLCAD activity or newborn screening (PMID: 23480858). The highest population minor allele frequency in gnomAD v2.1.1 is 0.06989 in the African 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 0.236, 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 criteria to be classified as benign for very long chain acyl-CoA dehydrogenase deficiency in an autosomal recessive manner. ACADVL-specific ACMG/AMP criteria applied: BA1; BP4
Met criteria codes
BP4
REVEL score of 0.236, below the benign threshold
BA1
African MAF is 0.06989 with 63 homozygotes, well above the BA1 cutoff
Not Met criteria codes
BS2
Not used, although being seen in a seemingly normal individual without VLCAD seems important
PP4
VLCAD activity in fibroblasts has excess VLCAD activity and proband has normal newborn screening
PM1
This variant is not predicted to alter the amphipathic helix motif critical for the mitochondrial targeting peptide of the VLCAD precursor, where it is located.
Curation History
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