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NM_000018.4(ACADVL):c.138+2dup

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
Nov 1, 2019
Accession:
VCV000449935.4
Variation ID:
449935
Description:
1bp duplication
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NM_000018.4(ACADVL):c.138+2dup

Allele ID
445883
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7220198-7220199 (GRCh38) GRCh38 UCSC
17: 7123517-7123518 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7123518dup
NC_000017.11:g.7220199dup
NM_000018.4:c.138+2dup MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:7220198:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658658531
dbSNP: rs1555527548
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 2, 2017 RCV000523516.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Nov 1, 2019 RCV000666464.3
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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
Likely pathogenic
(May 02, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000618411.1
Submitted: (Nov 28, 2017)
Evidence details
Comment:
The c.138+2dupT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Adequate data … (more)
Uncertain significance
(Apr 24, 2017)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000790761.1
Submitted: (Jul 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: SCV001364949.2
Submitted: (Jul 13, 2020)
Evidence details
Comment:
The NM_000018.3:c.138+2dupT (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7220199dupT] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. … (more)
Likely pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001455120.1
Submitted: (Dec 28, 2020)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1555527548...

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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 Aug 27, 2021