ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) (rs541517496)

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
Department of Pediatrics, Gifu University RCV000844794 SCV000966067 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Invitae RCV000844794 SCV001401847 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-09-06 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 193 of the ACAT1 protein (p.Met193Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with mitochondrial acetoacetyl-CoA thiolase deficiency (PMID: PMID: 15877211, 20046049). It also segregated with disease in related individuals. This variant has been reported to affect ACAT1 protein function (PMID: 15877211). This variant disrupts the p.Met193 amino acid residue in ACAT1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23958592, 27928777). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.