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.109C>T (p.Arg37Trp)

CA8337546

324982 (ClinVar)

Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 74af980b-bb57-47e7-a67f-11cf6dab4294
Approved on: 2023-02-28
Published on: 2023-02-28

HGVS expressions

NM_000018.4:c.109C>T
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp)
NC_000017.11:g.7220168C>T
CM000679.2:g.7220168C>T
NC_000017.10:g.7123487C>T
CM000679.1:g.7123487C>T
NC_000017.9:g.7064211C>T
NG_007975.1:g.5335C>T
NG_008391.2:g.4883G>A
ENST00000356839.10:c.109C>T
ENST00000322910.9:c.*64C>T
ENST00000350303.9:c.109C>T
ENST00000356839.9:c.109C>T
ENST00000543245.6:c.178C>T
ENST00000577191.5:n.186C>T
ENST00000577857.5:n.199C>T
ENST00000578269.5:n.216C>T
ENST00000578421.1:n.243C>T
ENST00000579286.5:n.216C>T
ENST00000579886.2:c.109C>T
ENST00000580263.5:n.199C>T
ENST00000581562.5:n.156C>T
ENST00000582056.5:n.199C>T
ENST00000582356.5:n.234C>T
ENST00000583312.5:c.109C>T
ENST00000584103.5:c.109C>T
NM_000018.3:c.109C>T
NM_001033859.2:c.109C>T
NM_001270447.1:c.178C>T
NM_001270448.1:c.-120C>T
NM_001033859.3:c.109C>T
NM_001270447.2:c.178C>T
NM_001270448.2:c.-120C>T
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Uncertain Significance

Met criteria codes 2
PM2_Supporting BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
ACADVL VCEP
The c.109C>T variant in ACADVL is a missense variant predicted to cause substitution of arginine by tryptophan at amino acid 37 (p.Arg37Trp). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00002 in the non-Finnish European population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting). The computational predictor REVEL gives a score of 0.316, which is below the threshold of 0.5, evidence that does not predict a damaging effect on ACADVL function (BP4). Due to conflicting evidence, this variant is classified as a 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: PM2_Supporting, BP4. (ACADVL VCEP specifications version 1; approved February 28, 2023)
Met criteria codes
PM2_Supporting
0.002% Non-Finnish European
BP4
REVEL: 0.316
Curation History
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