NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter) AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 3, 2022
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:: RCV002862577.3

Allele description [Variation Report for NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)]

NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)

Gene:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)

HGVS:

NC_000017.11:g.7221604C>T
NG_007975.1:g.6771C>T
NG_008391.2:g.3447G>A
NG_008391.3:g.3446G>A
NM_000018.4:c.544C>TMANE SELECT
NM_001033859.3:c.478C>T
NM_001270447.2:c.613C>T
NM_001270448.2:c.316C>T
NP_000009.1:p.Gln182Ter
NP_001029031.1:p.Gln160Ter
NP_001257376.1:p.Gln205Ter
NP_001257377.1:p.Gln106Ter
NC_000017.10:g.7124923C>T

Protein change:

Q106*

Molecular consequence:

NM_000018.4:c.544C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001033859.3:c.478C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001270447.2:c.613C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001270448.2:c.316C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

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LOC114315118 [Camellia sinensis]
LOC114315118 [Camellia sinensis]
Gene ID:114315118

Gene
Cited in PMC for PubMed (Select 31380255) (0)
PMC
101928542[uid] AND (alive[prop]) (0)
Gene
Hoffmannseggia arequipensis isolate H16 chloroplast trnL gene, partial sequence;...
Hoffmannseggia arequipensis isolate H16 chloroplast trnL gene, partial sequence; trnL-trnF intergenic spacer; and trnF gene, partial sequence
gi|34821771|gb|AY308484.1|

Nucleotide
CBSU5773.fwd NICHD_XGC_tropLimb_m Xenopus tropicalis cDNA clone IMAGE:8868365 5'...
CBSU5773.fwd NICHD_XGC_tropLimb_m Xenopus tropicalis cDNA clone IMAGE:8868365 5', mRNA sequence
gi|126587684|gnl|dbEST|45102108|gb| 749.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003227577	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 3, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9973285, 11590124, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003227577

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 3, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV003227577.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln182*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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