NM_000018.3(ACADVL):c.1009C>T (p.Leu337Phe) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Uncertain significance (Last evaluated: Jan 18, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000691839.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.1009C>T (p.Leu337Phe)]

NM_000018.3(ACADVL):c.1009C>T (p.Leu337Phe)

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_000018.3(ACADVL):c.1009C>T (p.Leu337Phe)
HGVS:
  • NC_000017.11:g.7222797C>T
  • NG_007975.1:g.7964C>T
  • NM_000018.3:c.1009C>T
  • NP_000009.1:p.Leu337Phe
  • NC_000017.10:g.7126116C>T
Protein change:
L337F
Molecular consequence:
  • NM_000018.3:c.1009C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000819635Invitaecriteria provided, single submitter
Uncertain significance
(Jan 18, 2018)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis.

Takahashi Y, Sano R, Nakajima T, Kominato Y, Kubo R, Takahashi K, Ohshima N, Hirano T, Kobayashi S, Shimada T, Tokue H, Awata S, Hirasawa S, Ishige T.

Forensic Sci Int. 2014 Nov;244:e34-7. doi: 10.1016/j.forsciint.2014.08.031. Epub 2014 Sep 6.

PubMed [citation]
PMID:
25242572

VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

Hoffmann L, Haussmann U, Mueller M, Spiekerkoetter U.

J Inherit Metab Dis. 2012 Mar;35(2):269-77. doi: 10.1007/s10545-011-9391-8. Epub 2011 Sep 20.

PubMed [citation]
PMID:
21932095
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000819635.1

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

Description

This sequence change replaces leucine with phenylalanine at codon 337 of the ACADVL protein (p.Leu337Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another ACADVL variant in an individual affected with very long-chain acyl-CoA dehydrogenase (VLCAD) (PMID: 25242572) and in an affected individual for whom a second variant was not identified (PMID: 21932095). This variant is also known as p.Leu297Phe in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Mar 30, 2019

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