Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000018.4(ACADVL):c.1678+23C>T

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Aug 13, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000541727.9
Variation ID:
541727
Description:
single nucleotide variant
Help

NM_000018.4(ACADVL):c.1678+23C>T

Allele ID
531822
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7224575 (GRCh38) GRCh38 UCSC
17: 7127894 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7127894C>T
NC_000017.11:g.7224575C>T
NM_000018.4:c.1678+23C>T MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:7224574:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00278
Exome Aggregation Consortium (ExAC) 0.00172
Trans-Omics for Precision Medicine (TOPMed) 0.00113
1000 Genomes Project 0.00140
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
Links
ClinGen: CA8338211
dbSNP: rs147546456
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 27, 2019 RCV001559679.1
Conflicting interpretations of pathogenicity 5 criteria provided, conflicting interpretations Dec 8, 2020 RCV000652047.7
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 27, 2018)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000799649.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
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: SCV001365167.2
Submitted: (Jul 13, 2020)
Evidence details
Comment:
The NM_000018.3:c.1678+23C>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224575C>T] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been … (more)
Uncertain significance
(Apr 05, 2018)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: maternal
Baylor Genetics
Accession: SCV001526917.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000773913.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Aug 27, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001781962.1
Submitted: (Aug 13, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 27246109)
Uncertain significance
(Jan 09, 2020)
no assertion criteria provided
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001455190.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. Evans M Molecular genetics and metabolism 2016 PMID: 27246109

Text-mined citations for rs147546456...

Help
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 Aug 17, 2021