ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1691-2_1691-1delinsGA

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002870845 SCV003223135 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Disruption of this splice site has been observed in individual(s) with features of glutaric acidemia type 2 (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change affects a splice site in intron 12 of the ETFDH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301).

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.