Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001385938 | SCV001585958 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2020-07-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). This variant has not been reported in the literature in individuals with ACAT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys78Argfs*9) in the ACAT1 gene. It is expected to result in an absent or disrupted protein product. |