ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)

dbSNP: rs1591361995
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
Department of Pediatrics, Gifu University RCV000844773 SCV000966040 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000844773 SCV001421431 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-05-20 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 20156697; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.163_167delinsAA, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the ACAT1 protein (p.Phe55_Leu56delinsLys).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702467 SCV005202647 uncertain significance not specified 2024-07-11 criteria provided, single submitter clinical testing Variant summary: ACAT1 c.163_167delinsAA (p.Phe55_Leu56delinsLys) results in an in-frame deletion-insertion that is predicted to delete two amino acids from the protein and insert one amino acid. The variant was absent in 282874 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.163_167delinsAA has been reported in the literature in individuals affected with Alpha-Methylacetoacetic Aciduria (Fukao_2010). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 20156697). ClinVar contains an entry for this variant (Variation ID: 666468). Based on the evidence outlined above, the variant was classified as uncertain significance.

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.