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.1007_1026del (p.Ile336fs)

CA891844265

581398 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: dcf6117b-69b6-40a4-9eaa-e3d6a55d54ce

Approved on: 2022-09-22

Published on: 2022-09-22

HGVS expressions

NM_000018.4:c.1007_1026del

NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs)

NC_000017.11:g.7222795_7222814del

CM000679.2:g.7222795_7222814del

NC_000017.10:g.7126114_7126133del

CM000679.1:g.7126114_7126133del

NC_000017.9:g.7066838_7066857del

NG_007975.1:g.7962_7981del

NG_008391.2:g.2237_2256del

ENST00000356839.10:c.1007_1026del

ENST00000322910.9:c.*962_*981del

ENST00000350303.9:c.941_960del

ENST00000356839.9:c.1007_1026del

ENST00000543245.6:c.1076_1095del

ENST00000578824.5:n.156_175del

ENST00000581378.5:n.725_744del

ENST00000582379.1:n.391_410del

ENST00000583858.5:n.36_55del

NM_000018.3:c.1007_1026del

NM_001033859.2:c.941_960del

NM_001270447.1:c.1076_1095del

NM_001270448.1:c.779_798del

NM_001033859.3:c.941_960del

NM_001270447.2:c.1076_1095del

NM_001270448.2:c.779_798del

Likely Pathogenic

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

PM2_Supporting PVS1

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specification: ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.1007_1026del (Ile336Argfs*16) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 10/20 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 2.1.1 (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in any individuals with VLCADD. To our knowledge, functional assays have not been reported for this variant. In summary, this variant meets the criteria to be classified as LIKELY PATHOGENIC 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: PVS1, PM2_Supporting (ClinGen ACADVL VCEP specifications version#1.0; approved 07-03-2022).

PM2_Supporting

PM2_Supporting is met. This variant is absent from gnomAD 2.1.1 (PM2_Supporting).

PVS1

PVS1 is met. The c.1007_1026del (Ile336Argfs*16) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 10/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs 9973285, 11590124).

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