ClinVar Miner

Submissions for variant NM_014049.4(ACAD9):c.359delT (rs863224844)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779382 SCV000915988 likely pathogenic Acyl-CoA dehydrogenase family, member 9, deficiency of 2018-10-24 criteria provided, single submitter clinical testing The ACAD9 c.359delT (p.Phe120SerfsTer9) variant is a frameshift variant that is predicted to result in premature termination of the protein. This variant has not been reported in the literature; however an equivalent variant, c.358delT (p.Phe120SerfsTer9) has been reported in at least five studies and is found in a compound heterozygous state in a total of three individuals with ACAD9 deficiency (Lee et al. 2014; Collet et al. 2015; Schiff et al. 2015; Fragaki et al. 2017; Repp et al. 2018). Control data are unavailable for the p.Phe120SerfsTer9 variant, which is reported at a frequency of 0.000527 in the Latino population of the Genome Aggregation Database. Mitochondrial respiratory chain complex I activity was reduced in patient-derived muscle and heart tissue (Collet et al. 2015; Schiff et al. 2015; Fragaki et al. 2017). Based on the evidence, the p.Phe120SerfsTer9 variant is classified as likely pathogenic for ACAD9 deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000813209 SCV000953554 pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe120Serfs*9) in the ACAD9 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746304569, ExAC 0.01%). This variant has been observed in individuals affected with mitochondrial complex I deficiency (PMID: 25721401, 26669660, 28529009). This variant is also known as c.358delT in the literature. ClinVar contains an entry for this variant (Variation ID: 424746). Loss-of-function variants in ACAD9 are known to be pathogenic (PMID: 25721401). For these reasons, this variant has been classified as Pathogenic.

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.