NM_000018.3(ACADVL):c.1406G>A (p.Arg469Gln) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Feb 25, 2015)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000169627.3

Allele description [Variation Report for NM_000018.3(ACADVL):c.1406G>A (p.Arg469Gln)]

NM_000018.3(ACADVL):c.1406G>A (p.Arg469Gln)

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.1406G>A (p.Arg469Gln)
HGVS:
  • NC_000017.11:g.7224041G>A
  • NG_007975.1:g.9208G>A
  • NM_000018.3:c.1406G>A
  • NP_000009.1:p.Arg469Gln
  • NC_000017.10:g.7127360G>A
  • P49748:p.Arg469Gln
Protein change:
R469Q
Links:
UniProtKB: P49748#VAR_000361; dbSNP: rs398123083
NCBI 1000 Genomes Browser:
rs398123083
Molecular consequence:
  • NM_000018.3:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000221156Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 25, 2015)
unknownliterature only

PubMed (4)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV000225985EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Aug 6, 2012)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Muscle MRI in patients with long-chain fatty acid oxidation disorders.

Diekman EF, van der Pol WL, Nievelstein RA, Houten SM, Wijburg FA, Visser G.

J Inherit Metab Dis. 2014 May;37(3):405-13. doi: 10.1007/s10545-013-9666-3. Epub 2013 Dec 5.

PubMed [citation]
PMID:
24305961

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
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000221156.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000225985.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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