NM_000018.3(ACADVL):c.799_802delGTTA (p.Val267Glnfs) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Nov 8, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410749.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.799_802delGTTA (p.Val267Glnfs)]

NM_000018.3(ACADVL):c.799_802delGTTA (p.Val267Glnfs)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.3(ACADVL):c.799_802delGTTA (p.Val267Glnfs)
HGVS:
  • NC_000017.11:g.7222223_7222226delGTTA
  • NM_000018.3:c.799_802delGTTA
  • NP_000009.1:p.Val267Glnfs
  • NC_000017.10:g.7125542_7125545delGTTA
Links:
dbSNP: rs761204548
NCBI 1000 Genomes Browser:
rs761204548
Molecular consequence:
  • NM_000018.3:c.799_802delGTTA - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000487267Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 8, 2016)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

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

Details of each submission

From Counsyl, SCV000487267.1

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

Last Updated: Mar 30, 2019

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