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NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs) AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Sep 9, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV003043075.4

Allele description [Variation Report for NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)]

NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)

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.1318_1319dup (p.Met440fs)
HGVS:
  • NC_000017.11:g.7223861_7223862dup
  • NG_007975.1:g.9028_9029dup
  • NG_008391.2:g.1190_1191dup
  • NG_008391.3:g.1189_1190dup
  • NG_033038.1:g.15684_15685dup
  • NM_000018.4:c.1318_1319dupMANE SELECT
  • NM_001033859.3:c.1252_1253dup
  • NM_001270447.2:c.1387_1388dup
  • NM_001270448.2:c.1090_1091dup
  • NP_000009.1:p.Met440fs
  • NP_001029031.1:p.Met418fs
  • NP_001257376.1:p.Met463fs
  • NP_001257377.1:p.Met364fs
  • NC_000017.10:g.7127178_7127179insTA
  • NC_000017.10:g.7127180_7127181dup
Protein change:
M364fs
Molecular consequence:
  • NM_000018.4:c.1318_1319dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001033859.3:c.1252_1253dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270447.2:c.1387_1388dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270448.2:c.1090_1091dup - 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
SCV003339720Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 2, 2022) 		germlineclinical testing

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

SCV004210956Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 9, 2023) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot 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 (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003339720.2

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

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met440Ilefs*5) 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 has not been reported in the literature in individuals affected with ACADVL-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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

From Baylor Genetics, SCV004210956.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024