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.1534_1535del (p.Arg512fs)

CA1139665155

932831 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 94366174-ad31-4af9-81c2-8fff20ad99b3

HGVS expressions

NM_000018.4:c.1534_1535del

NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs)

NC_000017.11:g.7224322_7224323del

CM000679.2:g.7224322_7224323del

NC_000017.10:g.7127641_7127642del

CM000679.1:g.7127641_7127642del

NC_000017.9:g.7068365_7068366del

NG_007975.1:g.9489_9490del

NG_008391.2:g.729_730del

NG_033038.1:g.15223_15224del

ENST00000356839.10:c.1534_1535del

ENST00000322910.9:c.*1489_*1490del

ENST00000350303.9:c.1468_1469del

ENST00000356839.9:c.1534_1535del

ENST00000542255.6:n.392_393del

ENST00000543245.6:c.1603_1604del

ENST00000578319.5:n.29_30del

ENST00000578711.1:n.818_819del

ENST00000578809.5:n.106_107del

ENST00000579391.1:n.142_143del

ENST00000579425.5:n.650_651del

ENST00000579546.1:n.273_274del

ENST00000579894.5:n.321_322del

ENST00000582450.1:n.42_43del

ENST00000583074.5:n.155_156del

ENST00000583850.5:n.309_310del

ENST00000583858.5:n.465_466del

ENST00000585203.6:n.725_726del

NM_000018.3:c.1534_1535del

NM_001033859.2:c.1468_1469del

NM_001270447.1:c.1603_1604del

NM_001270448.1:c.1306_1307del

NM_001033859.3:c.1468_1469del

NM_001270447.2:c.1603_1604del

NM_001270448.2:c.1306_1307del

Likely Pathogenic

PVS1 PM2_Supporting

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

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.1534_1535del (p.Arg512GlyfsTer49) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 17/20 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, functional assays have not been reported for this variant. To our knowledge, this variant has not been reported in the literature in any individuals with VLCADD. . 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 12-29-22).

PVS1

PVS1 is met. The c.1534_1535del (p.Arg512GlyfsTer49) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 17/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs: 9973285, 11590124).

PM2_Supporting

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

Approved on: 2023-06-29

Published on: 2023-06-29

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