Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381648 | SCV001580131 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2023-09-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val250Glyfs*18) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ACAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1069705). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001381648 | SCV004214677 | likely pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2023-04-27 | criteria provided, single submitter | clinical testing |