Evidence Repository
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.809del (p.Pro270fs)

CA891844264

572229 (ClinVar)

Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 49b72efb-5bd2-4bf1-9c40-ad2b7ab11a3e

HGVS expressions

NM_000018.4:c.809del
NM_000018.4(ACADVL):c.809del (p.Pro270fs)
NC_000017.11:g.7222233del
CM000679.2:g.7222233del
NC_000017.10:g.7125552del
CM000679.1:g.7125552del
NC_000017.9:g.7066276del
NG_007975.1:g.7400del
NG_008391.2:g.2819del
ENST00000356839.10:c.809del
ENST00000322910.9:c.*764del
ENST00000350303.9:c.743del
ENST00000356839.9:c.809del
ENST00000543245.6:c.878del
ENST00000577191.5:n.981del
ENST00000581378.5:c.527del
ENST00000582379.1:n.193del
NM_000018.3:c.809del
NM_001033859.2:c.743del
NM_001270447.1:c.878del
NM_001270448.1:c.581del
NM_001033859.3:c.743del
NM_001270447.2:c.878del
NM_001270448.2:c.581del

Likely Pathogenic

Met criteria codes 2
PM2_Supporting PVS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
ACADVL VCEP
The NM_000018.4(ACADVL):c.809del (p.Pro270GlnfsTer6) variant in ACADVL is a frameshift variant predicted cause a premature stop codon in biologically-relevant-exon 9/20 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_Suporting (ACADVL VCEP specifications version 1; approved November 9, 2021).
Met criteria codes
PM2_Supporting
This variant is absent from gnomAD v2.1.1 (PM2_Supporting).
PVS1
The NM_000018.4(ACADVL):c.809del (p.Pro270GlnfsTer6) variant in ACADVL is a frameshift variant predicted cause a premature stop codon in biologically-relevant-exon 9/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs 9973285, 11590124).
Approved on: 2023-09-26
Published on: 2023-09-26
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