ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) (rs886041122)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000318454 SCV000329051 pathogenic not provided 2016-09-30 criteria provided, single submitter clinical testing The T297M missense change in the ACAT1 gene has been reported previously in association with beta-ketothiolase deficiency in an individual who presented with a severe ketoacidotic attack who harbored another pathogenic missense variant on the opposite ACAT1 allele (in trans) (Fukao et al., 1995). In vivo expression studies found that T297M is associated with approximately 10% residual beta-ketothiolase enzyme activity (Fukao et al., 1995). The T297M variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T297M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary we interpret T297M to be pathogenic.
Department of Pediatrics, Gifu University RCV000844818 SCV000966094 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000844818 SCV001366905 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-08-29 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.

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