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.605T>C (p.Leu202Pro)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Aug 10, 2021)
Last evaluated:
Mar 26, 2020
Accession:
VCV000092288.7
Variation ID:
92288
Description:
single nucleotide variant
Help

NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)

Allele ID
98199
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7221665 (GRCh38) GRCh38 UCSC
17: 7124984 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7124984T>C
NM_001270448.1:c.377T>C NP_001257377.1:p.Leu126Pro missense
NC_000017.11:g.7221665T>C
... more HGVS
Protein change
L202P, L126P, L180P, L225P
Other names
-
Canonical SPDI
NC_000017.11:7221664:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA220216
dbSNP: rs398123090
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Mar 12, 2020 RCV000723640.5
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 26, 2020 RCV001200734.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADVL - - GRCh38
GRCh37
897 980

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 21, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000109750.8
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (1)
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Oct 26, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602360.2
Submitted: (Oct 10, 2018)
Evidence details
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: SCV001364895.2
Submitted: (Jul 13, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The NM_000018.3:c.605T>C (NP_000009.1:p.Leu202Pro) [GRCH38: NC_000017.11:g.7221665T>C] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported … (more)
Uncertain significance
(Mar 26, 2020)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV001487425.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces leucine with proline at codon 202 of the ACADVL protein (p.Leu202Pro). The leucine residue is highly conserved and there is a … (more)
Uncertain significance
(Mar 12, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001779462.1
Submitted: (Aug 10, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious … (more)

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
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD). Hesse J Journal of inherited metabolic disease 2018 PMID: 30194637
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. Schiff M Molecular genetics and metabolism 2013 PMID: 23480858
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ACADVL - - - -

Text-mined citations for rs398123090...

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 Nov 20, 2021