Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002781120 | SCV003031052 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2023-08-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1988079). This variant has not been reported in the literature in individuals affected with ACAT1-related conditions. This variant is present in population databases (rs774418317, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ala127Phefs*49) in the ACAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). |