ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) (rs398124151)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081076 SCV000224955 pathogenic not provided 2012-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000081076 SCV000566238 pathogenic not provided 2018-08-20 criteria provided, single submitter clinical testing The E412X variant in the ETFDH gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The E412X variant wasnot observed in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common variant in these populations. We interpret E412Xas a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000173803 SCV000893659 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000173803 SCV001201608 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu412*) in the ETFDH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs398124151, ExAC 0.001%). This variant has been observed in an individual affected with glutaric aciduria type 2 (Invitae). ClinVar contains an entry for this variant (Variation ID: 95071). Loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301). 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.