Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003119085 | SCV003790047 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2022-04-18 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 6 (c.435+388_512del) of the ACAT1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). This variant has not been reported in the literature in individuals affected with ACAT1-related conditions. This variant disrupts a region of the ACAT1 protein in which other variant(s) (p.Gly152Ala) have been determined to be pathogenic (PMID: 7749408, 15128923, 28255778). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |