Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatrics, |
RCV000844776 | SCV000966044 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2019-05-05 | criteria provided, single submitter | literature only | |
Mendelics | RCV000844776 | SCV001138419 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000844776 | SCV004296133 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2023-07-29 | 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: 666471). This premature translational stop signal has been observed in individual(s) with mitochondrial acetoacetyl-coenzyme A deficiency (PMID: 21669895). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln96*) 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). |