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NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(3);Pathogenic(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Nov 19, 2021)
Last evaluated:
Oct 7, 2020
Accession:
VCV000092278.17
Variation ID:
92278
Description:
single nucleotide variant
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NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)

Allele ID
98189
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7224663 (GRCh38) GRCh38 UCSC
17: 7127982 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7127982G>A
NC_000017.11:g.7224663G>A
NG_007975.1:g.9830G>A
... more HGVS
Protein change
R567Q, R491Q, R545Q, R590Q
Other names
-
Canonical SPDI
NC_000017.11:7224662:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00011
The Genome Aggregation Database (gnomAD) 0.00013
The Genome Aggregation Database (gnomAD) 0.00014
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Exome Aggregation Consortium (ExAC) 0.00015
Links
ClinGen: CA285290
dbSNP: rs398123084
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 7, 2020 RCV000813614.10
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 24, 2018 RCV000259048.4
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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
898 981

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000109738.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: unknown
Mendelics
Accession: SCV001140233.1
Submitted: (Oct 22, 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: SCV001364939.2
Submitted: (Jul 13, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The NM_000018.3:c.1700G>A (NP_000009.1:p.Arg567Gln) [GRCH38: NC_000017.11:g.7224663G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported … (more)
Likely pathogenic
(Mar 11, 2020)
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: SCV001158615.2
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The ACADVL c.1700G>A; p.Arg567Gln variant (rs398123084) is reported in the literature in an individual with elevated acylcarnitine levels (Schiff 2013). In testing performed at ARUP … (more)
Pathogenic
(Sep 30, 2019)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: unknown
Baylor Genetics
Accession: SCV001522462.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Likely pathogenic
(Oct 07, 2020)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000953981.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with glutamine at codon 567 of the ACADVL protein (p.Arg567Gln). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Feb 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001247040.6
Submitted: (Jul 04, 2021)
Evidence details
Likely pathogenic
(Dec 07, 2020)
no assertion criteria provided
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002021274.1
Submitted: (Nov 19, 2021)
Evidence details

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
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. Schiff M Molecular genetics and metabolism 2013 PMID: 23480858
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ACADVL - - - -

Text-mined citations for rs398123084...

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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 Nov 28, 2021