ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)

dbSNP: rs879255505
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
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000239383 SCV000297740 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2015-03-07 criteria provided, single submitter clinical testing
Department of Pediatrics, Gifu University RCV000239383 SCV000966073 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter literature only
Invitae RCV000239383 SCV003440314 pathogenic Deficiency of acetyl-CoA acetyltransferase 2022-04-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 218 of the ACAT1 protein (p.Ser218Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 27264805). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 252925). 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 ACAT1 protein function. 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.