Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001343624 | SCV001537622 | uncertain significance | Deficiency of acetyl-CoA acetyltransferase | 2021-11-22 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 335 of the ACAT1 protein (p.Met335Val). This variant is present in population databases (rs369440498, gnomAD 0.02%). 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: 1040042). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Natera, |
RCV001343624 | SCV002086531 | uncertain significance | Deficiency of acetyl-CoA acetyltransferase | 2020-05-29 | no assertion criteria provided | clinical testing |