Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatrics, |
RCV000844773 | SCV000966040 | uncertain significance | Deficiency of acetyl-CoA acetyltransferase | 2019-05-05 | criteria provided, single submitter | research | |
Invitae | RCV000844773 | SCV001421431 | likely pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2023-05-20 | criteria provided, single submitter | clinical testing | An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 20156697; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.163_167delinsAA, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the ACAT1 protein (p.Phe55_Leu56delinsLys). |