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NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 1, 2021)
Last evaluated:
Feb 12, 2020
Accession:
VCV000474878.6
Variation ID:
474878
Description:
single nucleotide variant
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NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)

Allele ID
467448
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7223681 (GRCh38) GRCh38 UCSC
17: 7127000 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000018.2:c.1220G>C
NC_000017.10:g.7127000G>C
NC_000017.11:g.7223681G>C
... more HGVS
Protein change
G407A, G331A, G385A, G430A
Other names
-
Canonical SPDI
NC_000017.11:7223680:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA287439291
dbSNP: rs904631654
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 3 criteria provided, multiple submitters, no conflicts Feb 12, 2020 RCV000544920.5
Likely pathogenic 1 no assertion criteria provided Jul 1, 2020 RCV001591287.1
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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
Pathogenic
(Feb 12, 2020)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000654920.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with alanine at codon 407 of the ACADVL protein (p.Gly407Ala). The glycine residue is highly conserved and there is a … (more)
Likely 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: SCV001365088.2
Submitted: (Jul 13, 2020)
Evidence details
Comment:
The NM_000018.3:c.1220G>C (NP_000009.1:p.Gly407Ala) [GRCH38: NC_000017.11:g.7223681G>C] variant in ACADVL gene is interpretated to be Likely pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001459251.1
Submitted: (Dec 28, 2020)
Evidence details
Likely pathogenic
(Jul 01, 2020)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001816345.1
Submitted: (Sep 01, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports … (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
Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. Merinero B JIMD reports 2018 PMID: 28755359

Text-mined citations for rs904631654...

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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