ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg)

dbSNP: rs2126321296
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 RCV002038411 SCV002312244 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-02-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 610 of the ETFDH protein (p.Gly610Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with multiple Acyl-CoA dehydrogenase deficiency (PMID: 24522293, 35309592; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1519846). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ETFDH protein function with a positive predictive value of 80%. Studies have shown that this missense change alters ETFDH gene expression (PMID: 24522293). 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.