NM_000018.3(ACADVL):c.1113delG (p.Ile373Phefs) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Nov 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411060.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.1113delG (p.Ile373Phefs)]

NM_000018.3(ACADVL):c.1113delG (p.Ile373Phefs)

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.1113delG (p.Ile373Phefs)
HGVS:
  • NC_000017.11:g.7223168delG
  • NM_000018.3:c.1113delG
  • NP_000009.1:p.Ile373Phefs
  • NC_000017.10:g.7126487delG
Links:
dbSNP: rs1057517416
NCBI 1000 Genomes Browser:
rs1057517416
Molecular consequence:
  • NM_000018.3:c.1113delG - 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
SCV000487244Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 1, 2016)
unknownclinical testing

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

Details of each submission

From Counsyl, SCV000487244.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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