NM_000018.3(ACADVL):c.865G>A (p.Gly289Arg) AND not provided

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

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489455.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.865G>A (p.Gly289Arg)]

NM_000018.3(ACADVL):c.865G>A (p.Gly289Arg)

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.865G>A (p.Gly289Arg)
HGVS:
  • NC_000017.11:g.7222289G>A
  • NG_007975.1:g.7456G>A
  • NM_000018.3:c.865G>A
  • NP_000009.1:p.Gly289Arg
  • NC_000017.10:g.7125608G>A
  • NM_000018.2:c.865G>A
Protein change:
G289R
Links:
dbSNP: rs200788251
NCBI 1000 Genomes Browser:
rs200788251
Molecular consequence:
  • NM_000018.3:c.865G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576558GeneDxcriteria provided, single submitter
Pathogenic
(Apr 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

Description

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 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 not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we interpret this variant as pathogenic.

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

Last Updated: Mar 30, 2019

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