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NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: May 26, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000474879.8
Variation ID:
474879
Description:
single nucleotide variant
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NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)

Allele ID
468807
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7223700 (GRCh38) GRCh38 UCSC
17: 7127019 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7127019A>G
NC_000017.11:g.7223700A>G
NM_000018.4:c.1239A>G MANE Select NP_000009.1:p.Ile413Met missense
... more HGVS
Protein change
I413M, I337M, I391M, I436M
Other names
-
Canonical SPDI
NC_000017.11:7223699:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00008
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00016
Links
ClinGen: CA8338045
dbSNP: rs143172658
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 28, 2019 RCV001508431.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Nov 27, 2020 RCV000537897.6
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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
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001288092.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (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: SCV001365208.2
Submitted: (Jul 13, 2020)
Evidence details
Comment:
The NM_000018.3:c.1239A>G (NP_000009.1:p.Ile413Met) [GRCH38: NC_000017.11:g.7223700A>G] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been … (more)
Likely benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000654922.4
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jul 28, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001714579.1
Submitted: (May 26, 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
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis. Hisahara S The Tohoku journal of experimental medicine 2015 PMID: 25843429

Text-mined citations for rs143172658...

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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 Jun 14, 2021