ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) (rs748303093)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493456 SCV000582426 likely pathogenic not provided 2015-10-02 criteria provided, single submitter clinical testing The I387T variant in the ACAT1 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The I387T 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 I387T 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. Missense variants in nearby residues (G379V, A380T, S390P, H397D) have been reported in the Human Gene Mutation Database in association with acetoacetyl-CoA thiolase deficiency (also known as alpha-methylacetoacetic aciduria) (Stenson et al., 2014), supporting the functional importance of this region of the protein. The I387T variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded
Department of Pediatrics, Gifu University RCV000662283 SCV000966120 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter literature only
Yale Center for Mendelian Genomics,Yale University RCV000662283 SCV000784611 pathogenic Deficiency of acetyl-CoA acetyltransferase 2017-07-20 no assertion criteria provided literature only
Natera, Inc. RCV000662283 SCV001461799 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2020-09-16 no assertion criteria provided clinical testing

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