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NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 16, 2020
Accession:
VCV000370981.12
Variation ID:
370981
Description:
single nucleotide variant
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NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)

Allele ID
358466
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7222289 (GRCh38) GRCh38 UCSC
17: 7125608 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.7222289G>A
NC_000017.10:g.7125608G>A
NM_000018.4:c.865G>A MANE Select NP_000009.1:p.Gly289Arg missense
... more HGVS
Protein change
G289R, G213R, G267R, G312R
Other names
-
Canonical SPDI
NC_000017.11:7222288:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00011
Exome Aggregation Consortium (ExAC) 0.00009
The Genome Aggregation Database (gnomAD) 0.00016
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00018
Links
ClinGen: CA8337873
dbSNP: rs200788251
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 Oct 16, 2020 RCV000408960.11
Pathogenic 1 criteria provided, single submitter Dec 27, 2017 RCV000489455.1
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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
884 960

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 27, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000576558.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The G289R missense variant has been reported previously in association with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in individuals who were also heterozygous for … (more)
Pathogenic
(Jan 22, 2018)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915776.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (6)
Comment:
Across a selection of the available literature, the ACADVL c.865G>A (p.Gly289Arg) variant has been reported in a compound heterozygous state in at least six individuals … (more)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Baylor Genetics
Accession: SCV001163425.1
Submitted: (Sep 27, 2019)
Evidence details
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: SCV001364906.2
Submitted: (Jul 13, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The NM_000018.3:c.865G>A (NP_000009.1:p.Gly289Arg) [GRCH38: NC_000017.11:g.7222289G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported … (more)
Likely pathogenic
(Nov 03, 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: SCV001156589.2
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The ACADVL c.865G>A; p.Gly289Arg variant (rs200788251), also known as p.Gly249Arg, is reported in the literature in the compound heterozygous state in individuals affected with very … (more)
Pathogenic
(Oct 16, 2020)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000820769.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces glycine with arginine at codon 289 of the ACADVL protein (p.Gly289Arg). The glycine residue is highly conserved and there is a … (more)
Likely pathogenic
(May 27, 2016)
no assertion criteria provided
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000486424.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (5)

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. Evans M Molecular genetics and metabolism 2016 PMID: 27246109
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
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
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. Waisbren SE Developmental disabilities research reviews 2013 PMID: 23798014
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. Schiff M Molecular genetics and metabolism 2013 PMID: 23480858
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. Spiekerkoetter U The Journal of pediatrics 2003 PMID: 14517516

Text-mined citations for rs200788251...

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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 May 10, 2021