ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) (rs761086326)

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
Invitae RCV000505498 SCV000940586 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2019-03-19 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 400 of the ACAT1 protein (p.His400Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs761086326, ExAC 0.01%). This variant has not been reported in the literature in individuals with ACAT1-related disease. ClinVar contains an entry for this variant (Variation ID: 438580). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000505498 SCV000599597 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2017-09-11 no assertion criteria provided clinical testing The variant c.1199A>G(p.H400R) is not reported in 1000 genomes database and has minor allele frequency of 0.0016% in ExAC database. The in silico prediction of this variant is damaging by LRT, PolyPhen, SIFT and MutationTaster.

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.