ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.1112G>T (p.Gly371Val)

gnomAD frequency: 0.00001  dbSNP: rs796051905
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185697 SCV000238618 pathogenic not provided 2016-07-21 criteria provided, single submitter clinical testing The G371V variant was shown to affect the function of the SCAD enzyme in vitro (Pedersen et al., 2008). The G371V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G371V variant is a conservative aminoacid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. We interpret G371V as a disease-causing variant.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000675052 SCV004809585 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2024-04-04 criteria provided, single submitter clinical testing
Counsyl RCV000675052 SCV000800497 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2017-02-09 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.