NM_000018.3(ACADVL):c.1280G>A (p.Trp427Ter) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Feb 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412097.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.1280G>A (p.Trp427Ter)]

NM_000018.3(ACADVL):c.1280G>A (p.Trp427Ter)

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.1280G>A (p.Trp427Ter)
HGVS:
  • NC_000017.11:g.7223823G>A
  • NG_007975.1:g.8990G>A
  • NM_000018.3:c.1280G>A
  • NP_000009.1:p.Trp427Ter
  • NC_000017.10:g.7127142G>A
Protein change:
W427*
Links:
dbSNP: rs1057516519
NCBI 1000 Genomes Browser:
rs1057516519
Molecular consequence:
  • NM_000018.3:c.1280G>A - 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
SCV000485814Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 18, 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

Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

Mathur A, Sims HF, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J, Hug G, Strauss AW.

Circulation. 1999 Mar 16;99(10):1337-43.

PubMed [citation]
PMID:
10077518

Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

Zhang RN, Li YF, Qiu WJ, Ye J, Han LS, Zhang HW, Lin N, Gu XF.

World J Pediatr. 2014 May;10(2):119-25. doi: 10.1007/s12519-014-0480-2. Epub 2014 May 7.

PubMed [citation]
PMID:
24801231

Details of each submission

From Counsyl, SCV000485814.1

#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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