ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1006-1G>C (rs1131691567)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493713 SCV000582395 pathogenic not provided 2015-09-30 criteria provided, single submitter clinical testing The c.1006-1G>C pathogenic variant in the ACAT1 gene has been reported previously in association with autosomal recessive 3-ketothiolase deficiency (also known as alpha-methylacetoacetic aciduria) in the homozygous state in an individual who was born in Canada of non-consanguineous Vietnamese parents (Fukao et al., 1992). This splice site variant destroys the canonical splice acceptor site in intron 10. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1006-1G>C 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. We interpret c.1006-1G>C as a pathogenic variant.
Department of Pediatrics, Gifu University RCV000002970 SCV000966105 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
OMIM RCV000002970 SCV000023128 pathogenic Deficiency of acetyl-CoA acetyltransferase 1992-07-07 no assertion criteria provided literature only

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