NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)]

NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
  • NC_000017.11:g.7222289G>A
  • NG_007975.1:g.7456G>A
  • NG_008391.2:g.2762C>T
  • NM_000018.4:c.865G>AMANE SELECT
  • NM_001033859.2:c.799G>A
  • NM_001270447.1:c.934G>A
  • NM_001270448.1:c.637G>A
  • NP_000009.1:p.Gly289Arg
  • NP_001029031.1:p.Gly267Arg
  • NP_001257376.1:p.Gly312Arg
  • NP_001257377.1:p.Gly213Arg
  • NC_000017.10:g.7125608G>A
  • NM_000018.2:c.865G>A
  • NM_000018.3:c.865G>A
Protein change:
dbSNP: rs200788251
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000018.4:c.865G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.2:c.799G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.1:c.934G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.1:c.637G>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000576558GeneDxcriteria provided, single submitter
(Dec 27, 2017)
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, SCV000576558.3

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


The G289R missense variant has been reported previously in association with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in individuals who were also heterozygous for a second variant in the ACADVL gene (Spiekerkoetter et al., 2003; Schiff et al., 2013; Takahashi et al., 2014). Expression of G289R in E. coli found that it is associated with approximately 15% residual enzyme activity (Schiff et al., 2013). The G289R variant is observed in 28/126,620 (0.022%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). In summary, we interpret this variant as pathogenic.

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

Last Updated: May 10, 2021

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