ClinVar Genomic variation as it relates to human health
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
Variation ID: 203585 Accession: VCV000203585.40
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17p13.1 17: 7224011 (GRCh38) [ NCBI UCSC ] 17: 7127330 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jan 7, 2017 Oct 13, 2024 Aug 9, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000018.4:c.1376G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000009.1:p.Arg459Gln missense NM_001033859.3:c.1310G>A NP_001029031.1:p.Arg437Gln missense NM_001270447.2:c.1445G>A NP_001257376.1:p.Arg482Gln missense NM_001270448.2:c.1148G>A NP_001257377.1:p.Arg383Gln missense NC_000017.11:g.7224011G>A NC_000017.10:g.7127330G>A NG_007975.1:g.9178G>A NG_008391.2:g.1040C>T NG_033038.1:g.15534C>T - Protein change
- R459Q, R482Q, R383Q, R437Q
- Other names
- p.R459Q:CGG>CAG
- p.Arg459Gln
- NM_000018.4(ACADVL):c.1376G>A
- Canonical SPDI
- NC_000017.11:7224010:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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ACADVL | - | - |
GRCh38 GRCh37 |
1723 | 1932 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
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Dec 30, 2021 | RCV000185726.8 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jan 23, 2015 | RCV000414939.2 | |
Pathogenic (12) |
reviewed by expert panel
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Aug 9, 2022 | RCV000412089.33 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Mar 24, 2022 | RCV002516958.2 | |
ACADVL-related disorder
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Pathogenic (1) |
no assertion criteria provided
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Sep 16, 2024 | RCV003407682.7 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Aug 09, 2022)
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reviewed by expert panel
Method: curation
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Very long chain acyl-CoA dehydrogenase deficiency
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen ACADVL Variant Curation Expert Panel, ClinGen
FDA Recognized Database
Accession: SCV002576751.2 First in ClinVar: Oct 08, 2022 Last updated: Apr 23, 2023 |
Comment:
The c.1376G>A variant is a missense variant predicted to cause substitution of arginine by glutamine at amino acid 459 (p.Arg459Gln). This variant has been reported … (more)
The c.1376G>A variant is a missense variant predicted to cause substitution of arginine by glutamine at amino acid 459 (p.Arg459Gln). This variant has been reported in at least 11 individuals with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in the literature with either significantly reduced VLCAD activity or increased C14:1 acylcarnitine levels, with two individuals displaying both reduced VLCAD activity and increased C14:1 acylcarnitine levels, which is highly specific for VLCAD deficiency (PP4_moderate; PMID: 30194637; PMID: 21429517; PMID: 19327992). In these individuals, the variant was detected three times in the homozygous state plus 1 confirmed in-trans and 5 not confirmed in-trans with the pathogenic variant c.848T>C (PM3_strong; PMID: 30194637; PMID: 21429517). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00004646 in the European (non-Finnish) population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting). The variant is located in a well-studied dimerization domain which is critical for the protein's dimer interaction (PM1; PMID: 14517516). The computational predictor REVEL gives a score of 0.864, which is above the threshold of 0.75, evidence that correlates with impact to ACADVL function (PP3). In summary, this variant meets the criteria to be classified as pathogenic for autosomal recessive VLCAD deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: PP4_Moderate; PM3_Strong; PM2_Supporting; PM1; PP3 (ACADVL VCEP specifications version 1; approved November 8, 2021). (less)
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Likely pathogenic
(Jan 23, 2015)
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criteria provided, single submitter
Method: clinical testing
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Myopathy
Rhabdomyolysis
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000492896.1
First in ClinVar: Jan 13, 2017 Last updated: Jan 13, 2017 |
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Likely pathogenic
(Oct 12, 2016)
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criteria provided, single submitter
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000487128.2
First in ClinVar: Jan 07, 2017 Last updated: Dec 24, 2022 |
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Pathogenic
(Dec 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000238652.14
First in ClinVar: Jul 18, 2015 Last updated: Mar 04, 2023 |
Comment:
Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein … (more)
Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 21429517, 25214167, 32710939, 14517516, 26385305, 23798014, 19327992, 31589614, 34106991) (less)
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Pathogenic
(Jan 25, 2024)
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criteria provided, single submitter
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000654932.7
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 459 of the ACADVL protein (p.Arg459Gln). … (more)
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 459 of the ACADVL protein (p.Arg459Gln). This variant is present in population databases (rs751995154, gnomAD 0.005%). This missense change has been observed in individual(s) with VLCAD deficiency, several of them being clinically asymptomatic (PMID: 14517516, 19327992, 21429517, 23798014, 30194637). This variant is also known as p.Arg419Gln. ClinVar contains an entry for this variant (Variation ID: 203585). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACADVL protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000894149.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(Nov 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
Affected status: unknown
Allele origin:
germline
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Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV001364928.2
First in ClinVar: Jul 16, 2020 Last updated: Jul 16, 2020 |
Comment:
The NM_000018.3:c.1376G>A (NP_000009.1:p.Arg459Gln) [GRCH38: NC_000017.11:g.7224011G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported … (more)
The NM_000018.3:c.1376G>A (NP_000009.1:p.Arg459Gln) [GRCH38: NC_000017.11:g.7224011G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 14517516. This variant meets the following evidence codes reported in the ACMG guidelines: PS1, PS3 (less)
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Pathogenic
(Apr 02, 2020)
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criteria provided, single submitter
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001368576.2
First in ClinVar: Jul 04, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS3,PS4,PM2,PM3,PP3.
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Pathogenic
(Apr 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV003915825.1
First in ClinVar: Apr 23, 2023 Last updated: Apr 23, 2023 |
Comment:
A heterozygous missense variant in exon 14 of the ACADVL gene that results in the amino acid substitution of Glutamine for Arginine at codon 459 … (more)
A heterozygous missense variant in exon 14 of the ACADVL gene that results in the amino acid substitution of Glutamine for Arginine at codon 459 (p.Arg459Gln) was detected. The observed variant has previously been reported in patients affected with VLCAD deficiency and functional characterization of patient fibroblasts indicates significant reduction in VLCAD enzymatic activity [PMID: 19327992]. The variant has not been reported in the 1000 genomes database and has a minor allele frequency of 0.003%, 0.002% and 0.003% in the gnomAD (v3.1), gnomdAD (v2), and topmed databases respectively. The in-silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv), SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic. (less)
Clinical Features:
Global developmental delay (present)
Age: 0-9 years
Sex: female
Method: DNA was used to perform targeted gene capture using a custom capture kit. Libraries were sequenced to mean >80-100X coverage on Illumina sequencing platform. Sequence obtained were aligned to human references genome using BWA program and analyzed using Picard and GATK-Lite toolkit to identify variants in the targeted genes relevant to clinical indication.
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Pathogenic
(Jan 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000883346.6
First in ClinVar: Dec 19, 2017 Last updated: Feb 20, 2024 |
Comment:
The ACADVL c.1376G>A; p.Arg459Gln variant (rs751995154), also known as p.Arg419Gln in traditional nomenclature, is reported in the literature in individuals with Very Long-Chain Acyl-Coenzyme A … (more)
The ACADVL c.1376G>A; p.Arg459Gln variant (rs751995154), also known as p.Arg419Gln in traditional nomenclature, is reported in the literature in individuals with Very Long-Chain Acyl-Coenzyme A Dehydrogenase (VLCAD) deficiency (Laforet 2009, McGoey 2011, Miller 2015, Spiekerkoetter 2003, Waisbren 2013) and has been found in trans to other pathogenic variants (McGoey 2011, Spiekerkoetter 2003). Functional characterization of patient fibroblasts indicates significant reduction in VLCAD enzymatic activity (Laforet 2009). This variant is reported as pathogenic/likely pathogenic by multiple laboratories in ClinVar (Variation ID: 203585), and it is found on only eight chromosomes (8/282800 alleles) in the Genome Aggregation Database. The arginine at residue 459 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.864). Additional, another variant at the same codon (p.Arg459Trp) has been reported in individuals with VLCAD deficiency and is considered pathogenic (Andresen 1999, Miller 2015). Based on the above information, the p.Arg459Gln variant is considered to be pathogenic. References: Andresen B et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 1999 Feb;64(2):479-94. PMID: 9973285. Laforet P et al. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord. 2009; 19(5):324-9. PMID: 19327992 McGoey R et al. Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency. J Pediatr. 2011; 158(6):1031-2. PMID: 21429517. Miller MJ et al. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov;116(3):139-45. PMID: 26385305 Spiekerkoetter U et al. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr. 2003; 143(3):335-42. PMID: 14517516 Waisbren S et al. Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. Dev Disabil Res Rev. 2013; 17(3):260-8. PMID: 23798014. (less)
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Likely pathogenic
(Mar 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003733711.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.1376G>A (p.R459Q) alteration is located in exon 14 (coding exon 14) of the ACADVL gene. This alteration results from a G to A substitution … (more)
The c.1376G>A (p.R459Q) alteration is located in exon 14 (coding exon 14) of the ACADVL gene. This alteration results from a G to A substitution at nucleotide position 1376, causing the arginine (R) at amino acid position 459 to be replaced by a glutamine (Q). This alteration has been reported in the compound heterozygous and homozygous states in multiple individuals diagnosed with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) (Hesse, 2018; Laforêt, 2009; McGoey, 2011; Spiekerkoetter, 2003; Waisbren, 2013). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic. (less)
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Likely pathogenic
(Mar 10, 2024)
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criteria provided, single submitter
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004183482.2
First in ClinVar: Dec 24, 2023 Last updated: Jun 17, 2024 |
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Pathogenic
(Jun 06, 2024)
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criteria provided, single submitter
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV005205105.1
First in ClinVar: Sep 16, 2024 Last updated: Sep 16, 2024 |
Comment:
Variant summary: ACADVL c.1376G>A (p.Arg459Gln) results in a conservative amino acid change located in the Acyl-CoA dehydrogenase/oxidase, C-terminal domain (IPR009075) of the encoded protein sequence. … (more)
Variant summary: ACADVL c.1376G>A (p.Arg459Gln) results in a conservative amino acid change located in the Acyl-CoA dehydrogenase/oxidase, C-terminal domain (IPR009075) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 251410 control chromosomes, predominantly at a frequency of 4.4e-05 within the Non-Finnish European subpopulation in the gnomAD database. c.1376G>A has been reported in the literature in individuals affected with Very Long Chain Acyl-CoA Dehydrogenase Deficiency (example, Bozovic_2021, Capalbo_2019, Lin_2020,2023, Savarese_2014, Spiekerkoetter_2003). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 34106991, 31589614, 30904546, 32710939, 25214167, 14517516). ClinVar contains an entry for this variant (Variation ID: 203585). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Dec 18, 2020)
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criteria provided, single submitter
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
inherited
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV005368378.1
First in ClinVar: Oct 13, 2024 Last updated: Oct 13, 2024 |
Comment:
Criteria applied: PM3_VSTR,PM5_STR,PM2_SUP,PP3
Clinical Features:
Hearing impairment (present) , Abnormal tissue metabolite concentration (present) , Renal duplication (present) , Global developmental delay (present) , Abnormal facial shape (present) , Abnormal … (more)
Hearing impairment (present) , Abnormal tissue metabolite concentration (present) , Renal duplication (present) , Global developmental delay (present) , Abnormal facial shape (present) , Abnormal circulating long-chain fatty-acid concentration (present) (less)
Sex: male
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Pathogenic
(Sep 09, 2020)
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no assertion criteria provided
Method: clinical testing
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Very long chain acyl-CoA dehydrogenase deficiency
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV002088793.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
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Pathogenic
(Sep 16, 2024)
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no assertion criteria provided
Method: clinical testing
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ACADVL-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004110761.3
First in ClinVar: Nov 20, 2023 Last updated: Oct 08, 2024 |
Comment:
The ACADVL c.1376G>A variant is predicted to result in the amino acid substitution p.Arg459Gln. This variant has been reported in multiple individuals with very long … (more)
The ACADVL c.1376G>A variant is predicted to result in the amino acid substitution p.Arg459Gln. This variant has been reported in multiple individuals with very long chain acyl-CoA dehydrogenase deficiency (VLCADD), the majority of which have been identified via newborn screening (Spiekerkoetter et al. 2003. PubMed ID: 14517516; McGoey and Marble. 2011. PubMed ID: 21429517; Miller et al. 2015. PubMed ID: 26385305). Only a few patients with the c.1376G>A variant have been reported to be clinically symptomatic (Laforêt et al. 2009. PubMed ID: 19327992; Waisbren et al. 2013. PubMed ID: 23798014; Savarese et al. 2014. PubMed ID: 25214167). Available splicing prediction algorithms (SpliceAI; Alamut Visual v1.6.1) indicate that this variant may create a novel splice acceptor site within ACADVL exon 14 (based on transcript NM_000018.3). However, it should be noted that such predictions are not equivalent to functional evidence. This variant is reported in 0.0046% of alleles in individuals of European (non-Finnish) descent in gnomAD and has been classified as pathogenic by the ClinGen ACADVL Variant Curation Expert Panel and most submitters in clinvar (https://www.ncbi.nlm.nih.gov/clinvar/variation/203585/). Based on collective evidence, this variant is interpreted as pathogenic. (less)
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Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre. | Babić Božović I | PloS one | 2021 | PMID: 34106991 |
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies. | Lin Y | Clinica chimica acta; international journal of clinical chemistry | 2020 | PMID: 32710939 |
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. | Capalbo A | PLoS genetics | 2019 | PMID: 31589614 |
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population. | Lin Y | Clinica chimica acta; international journal of clinical chemistry | 2019 | PMID: 30904546 |
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD). | Hesse J | Journal of inherited metabolic disease | 2018 | PMID: 30194637 |
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. | Miller MJ | Molecular genetics and metabolism | 2015 | PMID: 26385305 |
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. | Savarese M | Acta neuropathologica communications | 2014 | PMID: 25214167 |
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. | Waisbren SE | Developmental disabilities research reviews | 2013 | PMID: 23798014 |
Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency. | McGoey RR | The Journal of pediatrics | 2011 | PMID: 21429517 |
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. | Laforêt P | Neuromuscular disorders : NMD | 2009 | PMID: 19327992 |
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. | Spiekerkoetter U | The Journal of pediatrics | 2003 | PMID: 14517516 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/10b5273f-7a1b-4007-882c-82d17b0ed875 | - | - | - | - |
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Text-mined citations for rs751995154 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.