NM_000018.3(ACADVL):c.-2216C>T AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Uncertain significance (Last evaluated: Mar 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673132.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.-2216C>T]

NM_000018.3(ACADVL):c.-2216C>T

Genes:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.3(ACADVL):c.-2216C>T
HGVS:
  • NC_000017.11:g.7217769C>T
  • NG_007975.1:g.2936C>T
  • NM_000018.3:c.-2216C>T
  • NM_001270447.1:c.82C>T
  • NP_001257376.1:p.Gln28Ter
  • NC_000017.10:g.7121088C>T
Protein change:
Q28*
Links:
dbSNP: rs1555526667
NCBI 1000 Genomes Browser:
rs1555526667
Molecular consequence:
  • NM_001270447.1:c.82C>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
SCV000798300Counsylcriteria provided, single submitter
Uncertain significance
(Mar 7, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000798300.1

#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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