NM_000018.3(ACADVL):c.433C>T (p.Gln145Ter) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Jan 28, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169585.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.433C>T (p.Gln145Ter)]

NM_000018.3(ACADVL):c.433C>T (p.Gln145Ter)

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.433C>T (p.Gln145Ter)
HGVS:
  • NC_000017.11:g.7221014C>T
  • NG_007975.1:g.6181C>T
  • NM_000018.3:c.433C>T
  • NP_000009.1:p.Gln145Ter
  • NC_000017.10:g.7124333C>T
Protein change:
Q145*
Links:
dbSNP: rs786204738
NCBI 1000 Genomes Browser:
rs786204738
Molecular consequence:
  • NM_000018.3:c.433C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000221092Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 28, 2015)
unknownliterature only

PubMed (2)
[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

DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Olpin S, Kvittingen EA, Augoustides-Savvopoulou P, Lindhout D, Halley DJ, Vianey-Saban C, Wanders RJ, Ijlst L, Schroeder LD, Bolund L, Gregersen N.

J Inherit Metab Dis. 1999 May;22(3):281-5. No abstract available.

PubMed [citation]
PMID:
10384387

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

Details of each submission

From Counsyl, SCV000221092.1

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

Last Updated: Mar 30, 2019

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