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]
  • Gene label mismatch: ACADVL vs undefined
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_000018.4(ACADVL):c.1533-4T>A

CA8338148

474890 (ClinVar)

Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 5d48a7b4-d8d0-406f-8a93-7834d754f817
Approved on: 2025-05-27
Published on: 2025-05-27

HGVS expressions

NM_000018.4:c.1533-4T>A
NM_000018.4(ACADVL):c.1533-4T>A
NC_000017.11:g.7224317T>A
CM000679.2:g.7224317T>A
NC_000017.10:g.7127636T>A
CM000679.1:g.7127636T>A
NC_000017.9:g.7068360T>A
NG_007975.1:g.9484T>A
NG_008391.2:g.734A>T
NG_033038.1:g.15228A>T
ENST00000356839.10:c.1533-4T>A
ENST00000322910.9:c.*1488-4T>A
ENST00000350303.9:c.1467-4T>A
ENST00000356839.9:c.1533-4T>A
ENST00000542255.6:c.391-4T>A
ENST00000543245.6:c.1602-4T>A
ENST00000578319.5:n.28-4T>A
ENST00000578711.1:n.813T>A
ENST00000578809.5:n.101T>A
ENST00000579391.1:n.141-4T>A
ENST00000579425.5:n.649-4T>A
ENST00000579546.1:c.272-4T>A
ENST00000579894.5:n.320-4T>A
ENST00000582450.1:n.37T>A
ENST00000583074.5:n.154-4T>A
ENST00000583850.5:n.308-4T>A
ENST00000583858.5:c.464-4T>A
ENST00000585203.6:n.724-4T>A
NM_000018.3:c.1533-4T>A
NM_001033859.2:c.1467-4T>A
NM_001270447.1:c.1602-4T>A
NM_001270448.1:c.1305-4T>A
NM_001033859.3:c.1467-4T>A
NM_001270447.2:c.1602-4T>A
NM_001270448.2:c.1305-4T>A
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Uncertain Significance

Met criteria codes 2
BP4 PM2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACADVL Version 2.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
ACADVL VCEP
The c.1533-4T>A variant in ACADVL is an intronic variant which occurs in intron 15. The result from in silico splicing predictor (SpliceAI) support that this variant does not affect splicing (BP4). The highest population minor allele frequency in gnomAD v4.1 is 0.0006 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). 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 variant of uncertain significance 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, PM2_Supporting (ACADVL VCEP specifications version 2; approved May 1, 2025).
Met criteria codes
BP4
The results from in silico splicing predictors (SpliceAI) support that this variant does not affect splicing (BP4).
PM2
The highest population minor allele frequency in gnomAD v4.1 is 0.0006 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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