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]

Variant: NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA913190951

618506 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 46930029-d022-4da3-8268-92b47fef38a8

Approved on: 2022-09-20

Published on: 2022-09-20

HGVS expressions

NM_000018.4:c.1102_1103del

NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)

NC_000017.11:g.7223157_7223158del

CM000679.2:g.7223157_7223158del

NC_000017.10:g.7126476_7126477del

CM000679.1:g.7126476_7126477del

NC_000017.9:g.7067200_7067201del

NG_007975.1:g.8324_8325del

NG_008391.2:g.1893_1894del

ENST00000356839.10:c.1102_1103del

ENST00000322910.9:c.*1057_*1058del

ENST00000350303.9:c.1036_1037del

ENST00000356839.9:c.1102_1103del

ENST00000543245.6:c.1171_1172del

ENST00000578579.2:n.51_52del

ENST00000578824.5:n.518_519del

ENST00000579425.5:n.126_127del

ENST00000582379.1:n.753_754del

ENST00000583858.5:n.131_132del

ENST00000585203.6:n.310_311del

NM_000018.3:c.1102_1103del

NM_001033859.2:c.1036_1037del

NM_001270447.1:c.1171_1172del

NM_001270448.1:c.874_875del

NM_001033859.3:c.1036_1037del

NM_001270447.2:c.1171_1172del

NM_001270448.2:c.874_875del

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.1102_1103del; p.Gln368Valfs*26 variant in ACADVL results in a frameshift predicted to cause a premature stop codon in biologically relevant exon 11/20 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 population database v2.1.1 (PM2_Supporting). The ACADVL Variant Curation Expert Panel VCEP classified the variant as likely pathogenic based on (PVS1,PM2_supporting).

PM2_Supporting

absent from gnomAD

PVS1

2-base deletion in exon 11

PP4

Reported in a heterozygote female (PMID 31589614). Exome cohort study. No phenotype provided

Curation History

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