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]

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Variant: NM_000018.4(ACADVL):c.62+18G>A

CA8337527

555394 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 3b96b5f5-5214-4e12-b7c9-0459227cd4b9

HGVS expressions

NM_000018.4:c.62+18G>A

NM_000018.4(ACADVL):c.62+18G>A

NC_000017.11:g.7220064G>A

CM000679.2:g.7220064G>A

NC_000017.10:g.7123383G>A

CM000679.1:g.7123383G>A

NC_000017.9:g.7064107G>A

NG_007975.1:g.5231G>A

NG_008391.2:g.4987C>T

ENST00000356839.10:c.62+18G>A

ENST00000322910.9:c.80G>A

ENST00000350303.9:c.62+18G>A

ENST00000356839.9:c.62+18G>A

ENST00000543245.6:c.132-58G>A

ENST00000577191.5:n.139+18G>A

ENST00000577857.5:n.152+18G>A

ENST00000578269.5:n.169+18G>A

ENST00000578421.1:n.139G>A

ENST00000579286.5:n.169+18G>A

ENST00000579886.2:c.62+18G>A

ENST00000580263.5:n.152+18G>A

ENST00000581562.5:n.109+18G>A

ENST00000582056.5:n.152+18G>A

ENST00000582356.5:n.187+18G>A

ENST00000583312.5:c.62+18G>A

ENST00000584103.5:c.62+18G>A

NM_000018.3:c.62+18G>A

NM_001033859.2:c.62+18G>A

NM_001270447.1:c.132-58G>A

NM_001270448.1:c.-224G>A

NM_001033859.3:c.62+18G>A

NM_001270447.2:c.132-58G>A

NM_001270448.2:c.-224G>A

Uncertain Significance

BP4 PM2_Supporting

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.62+18G>A (NM_000018.4) variant in ACADVL is an intronic variant which is located in intron 1 on a weakly conserved nucleotide. The highest population minor allele frequency in gnomAD v2.1.1 is 0.0002 in Admixed American population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting). The results from in silico splicing predictors (SpliceSiteFinder and MaxEntScn) support that this variant does not affect splicing (BP4). Due to limited 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 November 9, 2021).

BP4

The results from in silico splicing predictors (SSF and MaxEnt) support that this variant does not affect splicing (BP4).

PM2_Supporting

The highest population minor allele frequency in gnomAD v2.1.1 is 0.0002 in Admixed American population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting).

Approved on: 2023-12-15

Published on: 2023-12-15

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