NM_000018.3(ACADVL):c.1748C>G (p.Ser583Trp) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Uncertain significance (Last evaluated: Jul 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000675075.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.1748C>G (p.Ser583Trp)]

NM_000018.3(ACADVL):c.1748C>G (p.Ser583Trp)

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.1748C>G (p.Ser583Trp)
HGVS:
  • NC_000017.11:g.7224711C>G
  • NG_007975.1:g.9878C>G
  • NM_000018.2:c.1748C>G
  • NM_000018.3:c.1748C>G
  • NP_000009.1:p.Ser583Trp
  • NC_000017.10:g.7128030C>G
Protein change:
S583W
Links:
dbSNP: rs1085307648
NCBI 1000 Genomes Browser:
rs1085307648
Molecular consequence:
  • NM_000018.3:c.1748C>G - 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
SCV000800571Counsylcriteria provided, single submitter
Uncertain significance
(Jul 28, 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

Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane.

Souri M, Aoyama T, Hoganson G, Hashimoto T.

FEBS Lett. 1998 Apr 17;426(2):187-90.

PubMed [citation]
PMID:
9599005

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

Olsen RK, Dobrowolski SF, Kjeldsen M, Hougaard D, Simonsen H, Gregersen N, Andresen BS.

J Inherit Metab Dis. 2010 Jun;33(3):247-60. doi: 10.1007/s10545-010-9101-y. Epub 2010 May 18.

PubMed [citation]
PMID:
20480395
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000800571.1

#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: Apr 17, 2019

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