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NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 19, 2020
Accession:
VCV000374123.9
Variation ID:
374123
Description:
single nucleotide variant
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NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)

Allele ID
361026
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7223993 (GRCh38) GRCh38 UCSC
17: 7127312 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7127312G>A
NC_000017.11:g.7223993G>A
NG_007975.1:g.9160G>A
... more HGVS
Protein change
R453Q, R476Q, R431Q, R377Q
Other names
-
Canonical SPDI
NC_000017.11:7223992:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA8338089
dbSNP: rs138058572
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Oct 19, 2020 RCV001075888.3
Likely pathogenic 1 criteria provided, single submitter Jan 23, 2015 RCV000415274.1
Pathogenic 1 criteria provided, single submitter Aug 1, 2018 RCV001091164.1
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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
(Jan 23, 2015)
criteria provided, single submitter
Method: clinical testing
Myopathy
Rhabdomyolysis
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000492897.1
Submitted: (Nov 12, 2016)
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: SCV001364922.2
Submitted: (Jul 13, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The NM_000018.3:c.1358G>A (NP_000009.1:p.Arg453Gln) [GRCH38: NC_000017.11:g.7223993G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported … (more)
Pathogenic
(Oct 19, 2020)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV001391765.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces arginine with glutamine at codon 453 of the ACADVL protein (p.Arg453Gln). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001247037.5
Submitted: (Jul 04, 2021)
Evidence details
Likely pathogenic
(Dec 01, 2019)
no assertion criteria provided
Method: research
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences
Accession: SCV001241529.1
Submitted: (Mar 07, 2020)
Evidence details
Comment:
The variant was observed in two patients. The first patient is a 31-year-old Serbian woman who from non-consanguineous healthy parents who developed severe progressive fatigue … (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
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches. Gobin-Limballe S Biochimica et biophysica acta 2010 PMID: 20060901
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Andresen BS American journal of human genetics 1999 PMID: 9973285

Text-mined citations for rs138058572...

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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 07, 2021