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_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)

CA774734051

846935 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: eadf4b34-bfdb-4869-a56a-d1fc3c8254c9

Approved on: 2022-09-20

Published on: 2022-09-20

HGVS expressions

NM_000018.4:c.1611_1627dup

NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)

NC_000017.11:g.7224485_7224501dup

CM000679.2:g.7224485_7224501dup

NC_000017.10:g.7127804_7127820dup

CM000679.1:g.7127804_7127820dup

NC_000017.9:g.7068528_7068544dup

NG_007975.1:g.9652_9668dup

NG_008391.2:g.555_571dup

NG_033038.1:g.15049_15065dup

ENST00000356839.10:c.1611_1627dup

ENST00000322910.9:c.*1566_*1582dup

ENST00000350303.9:c.1545_1561dup

ENST00000356839.9:c.1611_1627dup

ENST00000542255.6:n.469_485dup

ENST00000543245.6:c.1680_1696dup

ENST00000578319.5:n.192_208dup

ENST00000578711.1:n.981_997dup

ENST00000578809.5:n.183_199dup

ENST00000579391.1:n.215_231dup

ENST00000579425.5:n.727_743dup

ENST00000579546.1:n.346_362dup

ENST00000579894.5:n.398_414dup

ENST00000582450.1:n.119_135dup

ENST00000583074.5:n.232_248dup

ENST00000583850.5:n.382_398dup

ENST00000583858.5:n.542_558dup

ENST00000585203.6:n.802_818dup

NM_000018.3:c.1611_1627dup

NM_001033859.2:c.1545_1561dup

NM_001270447.1:c.1680_1696dup

NM_001270448.1:c.1383_1399dup

NM_001033859.3:c.1545_1561dup

NM_001270447.2:c.1680_1696dup

NM_001270448.2:c.1383_1399dup

Likely Pathogenic

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

PVS1 PM2_Supporting

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.1611_1627dup (p.Phe543Tyrfs*15) variant in ACADVL is a frameshift 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 v2.1.1 (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in any individuals with VLCADD. The ACADVL Variant Curation Expert Panel VCEP classified the variant as likely pathogenic based on PVS1+PM2_supporting.

PVS1

Frameshift in exon 17/20

PM2_Supporting

Absent from gnomAD

PP4

No literature

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