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NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Dec 11, 2020)
Last evaluated:
Apr 16, 2020
Accession:
VCV000557676.2
Variation ID:
557676
Description:
single nucleotide variant
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NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)

Allele ID
548664
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7222744 (GRCh38) GRCh38 UCSC
17: 7126063 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.7222744C>A
NC_000017.10:g.7126063C>A
NM_000018.4:c.956C>A MANE Select NP_000009.1:p.Ser319Ter nonsense
... more HGVS
Protein change
S319*, S342*, S297*, S243*
Other names
-
Canonical SPDI
NC_000017.11:7222743:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs149467828
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 2 criteria provided, multiple submitters, no conflicts Apr 16, 2020 RCV000673848.2
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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
888 968

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 12, 2018)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000799096.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (2)
Pathogenic
(Apr 16, 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: SCV001473604.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The ACADVL c.956C>A p.Ser319Ter variant (rs149467828) is reported in the literature in at least one individual affected with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency … (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
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Pena LD Molecular genetics and metabolism 2016 PMID: 27209629
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Tabor HK American journal of human genetics 2014 PMID: 25087612

Text-mined citations for rs149467828...

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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