NM_000018.3(ACADVL):c.664G>A (p.Gly222Arg) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Aug 21, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169301.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.664G>A (p.Gly222Arg)]

NM_000018.3(ACADVL):c.664G>A (p.Gly222Arg)

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.664G>A (p.Gly222Arg)
HGVS:
  • NC_000017.11:g.7221993G>A
  • NG_007975.1:g.7160G>A
  • NM_000018.3:c.664G>A
  • NP_000009.1:p.Gly222Arg
  • NC_000017.10:g.7125312G>A
  • NM_000018.2:c.664G>A
Protein change:
G222R
Links:
dbSNP: rs398123091
NCBI 1000 Genomes Browser:
rs398123091
Molecular consequence:
  • NM_000018.3:c.664G>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
SCV000220620Counsylcriteria provided, single submitter
Likely pathogenic
(Aug 21, 2014)
unknownliterature only

PubMed (5)
[See all records that cite these PMIDs]

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.

Voermans NC, van Engelen BG, Kluijtmans LA, Stikkelbroeck NM, Hermus AR.

Am J Med. 2006 Feb;119(2):176-9. No abstract available.

PubMed [citation]
PMID:
16443431

Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.

Aires V, Delmas D, Le Bachelier C, Latruffe N, Schlemmer D, Benoist JF, Djouadi F, Bastin J.

Orphanet J Rare Dis. 2014 Jun 5;9:79. doi: 10.1186/1750-1172-9-79.

PubMed [citation]
PMID:
24898617
PMCID:
PMC4051957
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000220620.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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