NM_000018.3(ACADVL):c.932delT (p.Phe311Serfs) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Oct 25, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000670204.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.932delT (p.Phe311Serfs)]

NM_000018.3(ACADVL):c.932delT (p.Phe311Serfs)

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.932delT (p.Phe311Serfs)
HGVS:
  • NC_000017.11:g.7222720del
  • NG_007975.1:g.7887del
  • NM_000018.3:c.932delT
  • NP_000009.1:p.Phe311Serfs
  • NC_000017.10:g.7126039del
  • NM_000018.3:c.932del
Links:
dbSNP: rs764488310
NCBI 1000 Genomes Browser:
rs764488310
Molecular consequence:
  • NM_000018.3:c.932del - 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
SCV000795034Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 25, 2017)
unknownclinical testing

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

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

Details of each submission

From Counsyl, SCV000795034.1

#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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