ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)

gnomAD frequency: 0.00001  dbSNP: rs377295639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844840 SCV000966123 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter literature only
Invitae RCV000844840 SCV002316468 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-08-23 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACAT1 protein function. ClinVar contains an entry for this variant (Variation ID: 666531). This missense change has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 28255778). This variant is present in population databases (rs377295639, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 389 of the ACAT1 protein (p.Met389Ile).
Baylor Genetics RCV000844840 SCV004217035 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2022-11-03 criteria provided, single submitter clinical testing

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