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NM_000018.4(ACADVL):c.889_891del (p.Glu297del)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 1, 2019
Accession:
VCV000203590.7
Variation ID:
203590
Description:
3bp deletion
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NM_000018.4(ACADVL):c.889_891del (p.Glu297del)

Allele ID
200327
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
17p13.1
Genomic location
17: 7222677-7222679 (GRCh38) GRCh38 UCSC
17: 7125996-7125998 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7125996_7125998del
NC_000017.11:g.7222677_7222679del
NM_000018.4:c.889_891del MANE Select NP_000009.1:p.Glu297del
... more HGVS
Protein change
E297del, E221del, E275del, E320del
Other names
-
Canonical SPDI
NC_000017.11:7222676:GAG:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA312285
dbSNP: rs796051914
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 16, 2017 RCV000185737.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Nov 1, 2019 RCV001061118.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADVL - - GRCh38
GRCh37
888 968

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 16, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000238665.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.889_891delGAG variant has been reported in an individual with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency who was heterozygous for another variant in the … (more)
Uncertain significance
(Nov 01, 2019)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV001365053.2
Submitted: (Jul 13, 2020)
Evidence details
Comment:
The NM_000018.3:c.889_891delGAG (NP_000009.1:p.Glu297del) [GRCH38: NC_000017.11:g.7222677_7222679del] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been … (more)
Pathogenic
(Sep 17, 2019)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001474560.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The ACADVL c.889_891delGAG; p.Glu297del variant (rs796051914), also known as Glu257del, deletes three nucleotides resulting in an in-frame deletion of a single glutamate residue. This variant … (more)
Uncertain significance
(Jun 16, 2019)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV001225850.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This variant, c.889_891del, results in the deletion of 1 amino acid(s) of the ACADVL protein (p.Glu297del), but otherwise preserves the integrity of the reading frame. … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Miller MJ Molecular genetics and metabolism 2015 PMID: 26385305
Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening. Brown A Molecular genetics and metabolism 2014 PMID: 25456746

Text-mined citations for rs796051914...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021