Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813331 | SCV000953689 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2021-06-24 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 6-7 of the ACAT1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ACAT1-related disease. Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). For these reasons, this variant has been classified as Pathogenic. |