Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatrics, |
RCV000844831 | SCV000966109 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2019-05-05 | criteria provided, single submitter | research | |
Revvity Omics, |
RCV000844831 | SCV002021683 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2021-03-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000844831 | SCV003440315 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2022-10-09 | 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: 666523). This premature translational stop signal has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 28220263). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu345Argfs*10) 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). |