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NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Aug 30, 2021)
Last evaluated:
Jul 22, 2021
Accession:
VCV000203595.14
Variation ID:
203595
Description:
single nucleotide variant
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NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)

Allele ID
200323
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7221613 (GRCh38) GRCh38 UCSC
17: 7124932 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7124932G>A
NC_000017.11:g.7221613G>A
NG_007975.1:g.6780G>A
... more HGVS
Protein change
G185S, G163S, G109S, G208S
Other names
p.G185S:GGT>AGT
Canonical SPDI
NC_000017.11:7221612:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA312291
UniProtKB: P49748#VAR_000335
dbSNP: rs545215807
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts May 1, 2017 RCV000185742.4
Pathogenic 5 criteria provided, multiple submitters, no conflicts Jul 22, 2021 RCV000412436.8
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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
(Jul 12, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000238670.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The G185S variant has been previously reported in association with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency using an alternative numbering system based on the … (more)
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: SCV001364892.2
Submitted: (Jul 13, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The NM_000018.3:c.553G>A (NP_000009.1:p.Gly185Ser) [GRCH38: NC_000017.11:g.7221613G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported … (more)
Pathogenic
(Jan 17, 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: SCV000883349.3
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The ACADVL c.553G>A, p.Gly185Ser variant (rs545215807), also known as Gly145Ser, has been reported in multiple individuals with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (Andresen 1999, Gobin-Limballe … (more)
Pathogenic
(Oct 10, 2020)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000654958.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces glycine with serine at codon 185 of the ACADVL protein (p.Gly185Ser). The glycine residue is highly conserved and there is a … (more)
Pathogenic
(May 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001246296.5
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Jul 22, 2021)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001810246.1
Submitted: (Aug 30, 2021)
Evidence details
Likely pathogenic
(Oct 13, 2016)
no assertion criteria provided
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000485276.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (4)

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
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay. Yamaguchi S Molecular genetics and metabolism 2012 PMID: 22841441
VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. Hoffmann L Journal of inherited metabolic disease 2012 PMID: 21932095
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
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. Gobin-Limballe S American journal of human genetics 2007 PMID: 17999356
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 rs545215807...

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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