NM_000018.3(ACADVL):c.1679-6G>A AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000185730.4

Allele description [Variation Report for NM_000018.3(ACADVL):c.1679-6G>A]

NM_000018.3(ACADVL):c.1679-6G>A

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.1679-6G>A
HGVS:
  • NC_000017.11:g.7224636G>A
  • NG_007975.1:g.9803G>A
  • NM_000018.3:c.1679-6G>A
  • NC_000017.10:g.7127955G>A
  • NM_000018.2:c.1679-6G>A
Links:
dbSNP: rs113994171
NCBI 1000 Genomes Browser:
rs113994171
Molecular consequence:
  • NM_000018.3:c.1679-6G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238656GeneDxcriteria provided, single submitter
Pathogenic
(Jan 11, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000238656.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1679-6 G>A variant in the ACADVL gene has been reported previously in association with verylong chain acyl-CoA dehydrogenase (VLCAD) deficiency (Andresen et al., 1996; Cox et al., 1998).The c.1679-6 G>A variant resulted in no detectable mRNA by Northern blot analysis and barelydetectable mRNA by RT-PCR (Andresen et al., 1996). The c.1679-6 G>A variant is not observed at asignificant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al.,2015; Exome Variant Server). In summary, we interpret c.1679-6 G>A as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2019

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