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NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 3, 2021)
Last evaluated:
Sep 3, 2020
Accession:
VCV000001626.9
Variation ID:
1626
Description:
3bp microsatellite
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NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)

Allele ID
16665
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
17p13.1
Genomic location
17: 7220965-7220967 (GRCh38) GRCh38 UCSC
17: 7124284-7124286 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7124285GAG[1]
NC_000017.11:g.7220966GAG[1]
NG_007975.1:g.6133GAG[1]
... more HGVS
Protein change
E130del, E54del, E153del, E108del
Other names
-
Canonical SPDI
NC_000017.11:7220964:GGAGGAG:GGAG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA251904
OMIM: 609575.0006
dbSNP: rs387906251
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 6 criteria provided, multiple submitters, no conflicts Sep 3, 2020 RCV000001693.13
Pathogenic 1 no assertion criteria provided May 14, 2020 RCV001596930.1
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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
(Aug 25, 2014)
criteria provided, single submitter
Method: literature only
Very long chain acyl-CoA dehydrogenase deficiency
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220634.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (2)
Pathogenic
(Sep 03, 2020)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000773898.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This variant, c.388_390delGAG, results in the deletion of 1 amino acid(s) of the ACADVL protein (p.Glu130del), but otherwise preserves the integrity of the reading frame. … (more)
Pathogenic
(Apr 19, 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: SCV001160512.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The ACADVL c.388_390delGAG; p.Glu130del variant (rs387906251) is reported in the literature in the compound heterozygous state in multiple individuals affected with very long-chain acyl-CoA dehydrogenase … (more)
Pathogenic
(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: SCV001364888.2
Submitted: (Jul 13, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The NM_000018.3:c.388_390delGAG (NP_000009.1:p.Glu130del) [GRCH38: NC_000017.11:g.7220969_7220971delGAG] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported … (more)
Pathogenic
(Apr 26, 2019)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362322.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (7)
Comment:
Variant summary: ACADVL c.388_390delGAG (p.Glu130del) results in an in-frame deletion that is predicted to remove one of two glutamate residues in codon 388-390. The variant … (more)
Pathogenic
(Jan 01, 1996)
no assertion criteria provided
Method: literature only
VLCAD DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000021849.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(May 14, 2020)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001830577.1
Submitted: (Sep 03, 2021)
Evidence details
Comment:
Functional studies found that the c.388_390delGAG variant is associated with significantly reduced levels of VLCAD protein and reduced enzyme activity (Souri et al., 1996); Not … (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
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Pena LD Molecular genetics and metabolism 2016 PMID: 27209629
Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation. Ko JM Annals of clinical and laboratory science 2016 PMID: 26927351
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
Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening. Siu WK Diagnostic molecular pathology : the American journal of surgical pathology, part B 2012 PMID: 22847164
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation. Hahn SH The Journal of pediatrics 1999 PMID: 10431122
Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane. Souri M FEBS letters 1998 PMID: 9599005
Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. Souri M American journal of human genetics 1996 PMID: 8554073

Text-mined citations for rs387906251...

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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 Sep 18, 2021