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NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 13, 2020)
Last evaluated:
Nov 1, 2019
Accession:
VCV000417917.3
Variation ID:
417917
Description:
1bp duplication
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NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)

Allele ID
404834
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7224379-7224380 (GRCh38) GRCh38 UCSC
17: 7127698-7127699 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.7224381dup
NC_000017.10:g.7127700dup
NM_000018.4:c.1593dup MANE Select NP_000009.1:p.Ser532fs frameshift
... more HGVS
Protein change
S532fs, S456fs, S510fs, S555fs
Other names
-
Canonical SPDI
NC_000017.11:7224379:GG:GGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16616934
dbSNP: rs1060499596
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, single submitter Nov 1, 2019 RCV000477936.2
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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
884 960

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV001364936.2
Submitted: (Jul 13, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The NM_000018.3:c.1593dupG (NP_000009.1:p.Ser532GlufsTer30) [GRCH38: NC_000017.11:g.7224381dupG] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported … (more)
Likely pathogenic
(May 09, 2015)
no assertion criteria provided
Method: research
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Division of Human Genetics,Children's Hospital of Philadelphia
Study: CSER-PediSeq
Accession: SCV000536845.1
Submitted: (Jan 23, 2017)
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
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

Text-mined citations for rs1060499596...

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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 Apr 08, 2021