ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.52dup (p.Leu18fs) (rs1476273214)

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 RCV000780811 SCV000966032 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Integrated Genetics/Laboratory Corporation of America RCV000780811 SCV000918382 pathogenic Deficiency of acetyl-CoA acetyltransferase 2017-12-18 criteria provided, single submitter clinical testing Variant summary: The ACAT1 c.52dupC (p.Leu18ProfsX49) variant results in a premature termination codon, predicted to cause a truncated or absent ACAT1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 3/142878 control chromosomes at a frequency of 0.000021, which does not exceed the estimated maximal expected allele frequency of a pathogenic ACAT1 variant (0.0028868). It has been reported in multiple affected individuals as compound heterozygotes, and pts fibroblast cells showed <15% of WT Enzyme activity (Zhang_2004, Saragoglou_2011, and paquay_ACAT1_JIMD_2017). Taken together, this variant is 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.