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NM_000018.4(ACADVL):c.488dup (p.Leu163fs) AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 3, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001979788.4

Allele description [Variation Report for NM_000018.4(ACADVL):c.488dup (p.Leu163fs)]

NM_000018.4(ACADVL):c.488dup (p.Leu163fs)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.488dup (p.Leu163fs)
HGVS:
  • NC_000017.11:g.7221548dup
  • NG_007975.1:g.6715dup
  • NG_008391.2:g.3505dup
  • NM_000018.4:c.488dupMANE SELECT
  • NM_001033859.3:c.422dup
  • NM_001270447.2:c.557dup
  • NM_001270448.2:c.260dup
  • NP_000009.1:p.Leu163fs
  • NP_001029031.1:p.Leu141fs
  • NP_001257376.1:p.Leu186fs
  • NP_001257377.1:p.Leu87fs
  • NC_000017.10:g.7124864_7124865insT
  • NC_000017.10:g.7124867dup
Protein change:
L141fs
Links:
dbSNP: rs2142974010
NCBI 1000 Genomes Browser:
rs2142974010
Molecular consequence:
  • NM_000018.4:c.488dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001033859.3:c.422dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270447.2:c.557dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270448.2:c.260dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Very long chain acyl-CoA dehydrogenase deficiency (ACADVLD)
Synonyms:
VLCAD deficiency
Identifiers:
MONDO: MONDO:0008723; MedGen: C3887523; Orphanet: 26793; OMIM: 201475

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002218162Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 3, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N.

Am J Hum Genet. 1999 Feb;64(2):479-94.

PubMed [citation]
PMID:
9973285
PMCID:
PMC1377757

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

Cox KB, Hamm DA, Millington DS, Matern D, Vockley J, Rinaldo P, Pinkert CA, Rhead WJ, Lindsey JR, Wood PA.

Hum Mol Genet. 2001 Sep 15;10(19):2069-77.

PubMed [citation]
PMID:
11590124
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002218162.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ACADVL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu163Phefs*9) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024