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.1077_1077+1delinsCAC

CA16041866

370686 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 49b75b54-eb1f-4ecb-a23d-19802a91dc47

HGVS expressions

NM_000018.4:c.1077_1077+1delinsCAC

NM_000018.4(ACADVL):c.1077_1077+1delinsCAC

NC_000017.11:g.7222865_7222866delinsCAC

CM000679.2:g.7222865_7222866delinsCAC

NC_000017.10:g.7126184_7126185delinsCAC

CM000679.1:g.7126184_7126185delinsCAC

NC_000017.9:g.7066908_7066909delinsCAC

NG_007975.1:g.8032_8033delinsCAC

NG_008391.2:g.2185_2186delinsGTG

ENST00000356839.10:c.1077_1077+1delinsCAC

ENST00000322910.9:c.*1032_*1032+1delinsCAC

ENST00000350303.9:c.1011_1011+1delinsCAC

ENST00000356839.9:c.1077_1077+1delinsCAC

ENST00000543245.6:c.1146_1146+1delinsCAC

ENST00000578824.5:n.226_227delinsCAC

ENST00000582379.1:n.461_462delinsCAC

ENST00000583858.5:n.106_106+1delinsCAC

ENST00000585203.6:n.18_19delinsCAC

NM_000018.3:c.1077_1077+1delinsCAC

NM_001033859.2:c.1011_1011+1delinsCAC

NM_001270447.1:c.1146_1146+1delinsCAC

NM_001270448.1:c.849_849+1delinsCAC

NM_001033859.3:c.1011_1011+1delinsCAC

NM_001270447.2:c.1146_1146+1delinsCAC

NM_001270448.2:c.849_849+1delinsCAC

Pathogenic

PM2_Supporting PVS1 PP4

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.1077_1077+1delinsCAC; p.Val360Thrfs*2 variant in ACADVL occurs within the canonical splice donor site of intron 10. It is predicted to cause skipping of biologically-relevant-exon 10, resulting in a frameshift leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1, PMIDs: 9973285, 11590124). This variant is absent from gnomAD population database v2.1.1 (PM2_Supporting). This variant has been reported once as a heterozygote associated with very-long chain acyl-CoA dehydrogenase deficiency (PP4, PMID: 9973285). The ACADVL Variant Curation Expert Panel VCEP classified the variant as pathogenic based on (PVS1,PM2_supporting,PP4).

PM2_Supporting

Absent from gnomAD

PVS1

Canonical donor splice site (exon 10) is completely removed.

PP4

Reported in one heterozygote patient with VLCADD. Table2 'GG->CAC'

Approved on: 2022-09-20

Published on: 2022-09-22

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