ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.85G>T (p.Val29Leu)

gnomAD frequency: 0.00006  dbSNP: rs764142914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444703 SCV000524784 uncertain significance not provided 2016-02-18 criteria provided, single submitter clinical testing The V29L variant in the ACAT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V29L variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, the V29L variant is a conservative amino acid substitution, which occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret V29L as a variant of uncertain significance.
Natera, Inc. RCV001833539 SCV002085774 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2019-10-28 no assertion criteria provided clinical testing

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