ClinVar Miner

Submissions for variant NM_014049.5(ACAD9):c.514G>A (p.Gly172Arg)

gnomAD frequency: 0.00001  dbSNP: rs761102100
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
GeneDx RCV000413407 SCV000490911 likely pathogenic not provided 2015-03-09 criteria provided, single submitter clinical testing The G172R variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The G172R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structureas these residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is conserved across species. In silico analysis predicts this variant is probably damaging to theprotein structure/function. Therefore, this variant is a strong candidate for a pathogenic variant, howeverthe possibility that it is a benign variant cannot be excluded.
Natera, Inc. RCV001275864 SCV001461496 likely pathogenic Acyl-CoA dehydrogenase 9 deficiency 2020-09-16 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.