NM_000018.3(ACADVL):c.1269+1G>A AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Pathogenic (Last evaluated: Dec 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000671502.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.1269+1G>A]

NM_000018.3(ACADVL):c.1269+1G>A

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.1269+1G>A
HGVS:
  • NC_000017.11:g.7223731G>A
  • NG_007975.1:g.8898G>A
  • NM_000018.3:c.1269+1G>A
  • NC_000017.10:g.7127050G>A
Links:
dbSNP: rs773401248
NCBI 1000 Genomes Browser:
rs773401248
Molecular consequence:
  • NM_000018.3:c.1269+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000796484Counsylcriteria provided, single submitter
Pathogenic
(Dec 18, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Diekman EF, Ferdinandusse S, van der Pol L, Waterham HR, Ruiter JP, Ijlst L, Wanders RJ, Houten SM, Wijburg FA, Blank AC, Asselbergs FW, Houtkooper RH, Visser G.

Genet Med. 2015 Dec;17(12):989-94. doi: 10.1038/gim.2015.22. Epub 2015 Apr 2.

PubMed [citation]
PMID:
25834949

Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.

Eminoglu TF, Tumer L, Okur I, Ezgu FS, Biberoglu G, Hasanoglu A.

Forensic Sci Int. 2011 Jul 15;210(1-3):e1-3. doi: 10.1016/j.forsciint.2011.04.003. Epub 2011 Apr 30.

PubMed [citation]
PMID:
21531094
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000796484.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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