ClinVar Miner

Submissions for variant NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) (rs139145143)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000488114 SCV000344763 uncertain significance not provided 2016-08-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488114 SCV000575370 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764463 SCV000895528 uncertain significance Acyl-CoA dehydrogenase family, member 9, deficiency of 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000764463 SCV000915011 uncertain significance Acyl-CoA dehydrogenase family, member 9, deficiency of 2018-12-04 criteria provided, single submitter clinical testing The ACAD9 c.1405C>T (p.Arg469Trp) missense variant has been reported in one study in which it was identified in a compound heterozygous state with a second missense variant in one individual with mitochondrial complex I deficiency (Gerards et al. 2011). A muscle biopsy from the affected individual indicated a 91% reduction in mitochondrial complex 1 activity compared to control (Scholte et al. 1995). The p.Arg469Trp variant was absent from 233 controls and is reported at a frequency of 0.000744 in the European (non-Finnish) population of the Genome Aggregation Database. Recombinant Arg469Trp ACAD9 protein, derived from a bacterial expression system was stable and showed a mildly decreased enzyme activity compared to wild type (Schiff et al. 2015). Based on the evidence, the p.Arg469Trp variant is classified as a variant of unknown significance but suspicious for pathogenicity for ACAD9 deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000488114 SCV000802485 uncertain significance not provided 2016-02-26 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.