NM_000018.3(ACADVL):c.1367G>A (p.Arg456His) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Nov 2, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410559.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.1367G>A (p.Arg456His)]

NM_000018.3(ACADVL):c.1367G>A (p.Arg456His)

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.1367G>A (p.Arg456His)
HGVS:
  • NC_000017.11:g.7224002G>A
  • NG_007975.1:g.9169G>A
  • NM_000018.3:c.1367G>A
  • NP_000009.1:p.Arg456His
  • NC_000017.10:g.7127321G>A
  • P49748:p.Arg456His
Protein change:
R456H
Links:
UniProtKB: P49748#VAR_000358; dbSNP: rs794727112
NCBI 1000 Genomes Browser:
rs794727112
Molecular consequence:
  • NM_000018.3:c.1367G>A - 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
SCV000487238Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 2, 2016)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
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

A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.

Aliefendioğlu D, Dursun A, Coşkun T, Akçören Z, Wanders RJ, Waterham HR.

Eur J Pediatr. 2007 Oct;166(10):1077-80. Epub 2007 Jan 6.

PubMed [citation]
PMID:
17206456

Details of each submission

From Counsyl, SCV000487238.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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