ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) (rs120074144)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000002974 SCV000966085 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077933 SCV000232459 pathogenic not provided 2013-08-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000002974 SCV000893169 pathogenic Deficiency of acetyl-CoA acetyltransferase 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000077933 SCV000490394 pathogenic not provided 2016-11-15 criteria provided, single submitter clinical testing The Q272X nonsense variant in the ACAT1 gene has been reported previously in association with beta-ketothiolase deficiency (Fukao et al., 1994; Fukao et al., 1995). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000002974 SCV000955131 pathogenic Deficiency of acetyl-CoA acetyltransferase 2018-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln272*) in the ACAT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with beta-ketothiolase deficiency (PMID: 7907600). ClinVar contains an entry for this variant (Variation ID: 2840). Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002974 SCV000023132 pathogenic Deficiency of acetyl-CoA acetyltransferase 1994-03-01 no assertion criteria provided literature only

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.