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.1684_1685del (p.Gln562fs)

CA1139665157

932833 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: f127993c-29f3-4043-9a59-8a911801d498

HGVS expressions

NM_000018.4:c.1684_1685del

NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs)

NC_000017.11:g.7224647_7224648del

CM000679.2:g.7224647_7224648del

NC_000017.10:g.7127966_7127967del

CM000679.1:g.7127966_7127967del

NC_000017.9:g.7068690_7068691del

NG_007975.1:g.9814_9815del

NG_008391.2:g.404_405del

NG_033038.1:g.14898_14899del

ENST00000356839.10:c.1684_1685del

ENST00000322910.9:c.*1639_*1640del

ENST00000350303.9:c.1618_1619del

ENST00000356839.9:c.1684_1685del

ENST00000542255.6:n.537-68_537-67del

ENST00000543245.6:c.1753_1754del

ENST00000578033.1:n.15_16del

ENST00000578319.5:n.265_266del

ENST00000578711.1:n.1143_1144del

ENST00000578809.5:n.256_257del

ENST00000579425.5:n.800_801del

ENST00000579546.1:n.419_420del

ENST00000582450.1:n.281_282del

ENST00000583074.5:n.300-68_300-67del

ENST00000583848.5:n.65-15_65-14del

ENST00000583850.5:n.455_456del

ENST00000583858.5:n.615_616del

ENST00000585203.6:n.875_876del

NM_000018.3:c.1684_1685del

NM_001033859.2:c.1618_1619del

NM_001270447.1:c.1753_1754del

NM_001270448.1:c.1456_1457del

NM_001033859.3:c.1618_1619del

NM_001270447.2:c.1753_1754del

NM_001270448.2:c.1456_1457del

Likely Pathogenic

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

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.1684_1685del (p.Gln562fs) variant in ACADVL is a frameshift predicted to cause a premature stop codon in biologically relevant exon 18/20 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). This variant has been reported once as a result of a positive newborn screening for VLCADD (PMID:26385305). The ACADVL Variant Curation Expert Panel VCEP classified the variant as likely pathogenic based on PVS1+PM2_supporting.

PM2_Supporting

Absent from gnomAD

PVS1

Frameshift in exon 18 of 20

PP4

No C14:1 level follow up.

Approved on: 2022-12-15

Published on: 2022-12-15

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