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_000018.3(ACADVL):c.625del

CA1139665140

965068 (ClinVar)

Gene: N/A

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: e7c28e84-f524-4b28-9ab7-6c37e7a74529

Approved on: 2023-06-27

Published on: 2023-06-27

HGVS expressions

NM_000018.3(ACADVL):c.625del

NC_000017.11:g.7221954del

CM000679.2:g.7221954del

NC_000017.10:g.7125273del

CM000679.1:g.7125273del

NC_000017.9:g.7065997del

NG_007975.1:g.7121del

NG_008391.2:g.3100del

ENST00000356839.10:c.625del

ENST00000322910.9:c.*580del

ENST00000350303.9:c.559del

ENST00000356839.9:c.625del

ENST00000543245.6:c.694del

ENST00000577191.5:n.702del

ENST00000577857.5:n.441del

ENST00000579286.5:n.806del

ENST00000579886.2:c.463del

ENST00000580365.1:n.356del

ENST00000581378.5:n.343del

ENST00000581562.5:n.527del

ENST00000582379.1:n.9del

ENST00000583312.5:c.640del

ENST00000583760.1:n.407del

NM_000018.3:c.625del

NM_001033859.2:c.559del

NM_001270447.1:c.694del

NM_001270448.1:c.397del

NM_000018.4:c.625del

NM_001033859.3:c.559del

NM_001270447.2:c.694del

NM_001270448.2:c.397del

Likely Pathogenic

PVS1 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 NM_000018.3(ACADVL):c.625del (p.Glu209ArgfsTer8) variant in ACADVL is a frameshift variant predicted cause a premature stop codon in biologically-relevant-exon 8/20 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 v2.1.1 (PM2_Supporting). 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.

PVS1

The NM_000018.3(ACADVL):c.625del variant in ACADVL is a frameshift variant predicted cause a premature stop codon in biologically-relevant-exon 8/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs 9973285, 11590124).

PM2_Supporting

This variant is absent from gnomAD v2.1.1 (PM2_Supporting).

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