ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)

dbSNP: rs2135356039
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001953420 SCV002245724 pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn164Argfs*11) in the ACAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1456767). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001953420 SCV004210398 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-10-25 criteria provided, single submitter 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.