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]

Link to SEPIO compliant JSON-LD document

Variant: NM_000018.4(ACADVL):c.623-8C>T

CA179708

166642 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: f3b3dbc2-da72-4409-987a-cf9b07ee6cb9

Approved on: 2022-03-08

Published on: 2022-03-08

HGVS expressions

NM_000018.4:c.623-8C>T

NM_000018.4(ACADVL):c.623-8C>T

NC_000017.11:g.7221944C>T

CM000679.2:g.7221944C>T

NC_000017.10:g.7125263C>T

CM000679.1:g.7125263C>T

NC_000017.9:g.7065987C>T

NG_007975.1:g.7111C>T

NG_008391.2:g.3107G>A

ENST00000356839.10:c.623-8C>T

ENST00000322910.9:c.*578-8C>T

ENST00000350303.9:c.557-8C>T

ENST00000356839.9:c.623-8C>T

ENST00000543245.6:c.692-8C>T

ENST00000577191.5:n.700-8C>T

ENST00000577857.5:n.439-8C>T

ENST00000579286.5:n.804-8C>T

ENST00000579886.2:c.461-8C>T

ENST00000580365.1:n.354-8C>T

ENST00000581378.5:n.341-8C>T

ENST00000581562.5:n.525-8C>T

ENST00000583312.5:c.630C>T

ENST00000583760.1:n.405-8C>T

NM_000018.3:c.623-8C>T

NM_001033859.2:c.557-8C>T

NM_001270447.1:c.692-8C>T

NM_001270448.1:c.395-8C>T

NM_001033859.3:c.557-8C>T

NM_001270447.2:c.692-8C>T

NM_001270448.2:c.395-8C>T

Benign

BA1 BP4

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.623-8C>T variant in ACADVL is an intronic variant which occurs in the polypyrimidine tract of intron 7. The highest population minor allele frequency in gnomAD v2.1.1 is 0.0289 in the African/African American population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.007) for BA1, and therefore meets this criterion (BA1). The results from 2 in silico splicing predictors (SpliceAI, NNSplice) support that this variant does not affect splicing (BP4). In summary, this variant meets the criteria to be classified as 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: BA1, BP4 (VCEP specifications v2.0, approved on 09/16/2021).

BA1

MAF of 0.02890 with 14 homozygotes in the African population

BP4

SpliceAI has no delta scores over 0.02 and predicts no impact. NNSplice predicts no changes to splicing.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.