ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.826+2T>C

dbSNP: rs2077590197
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002014601 SCV002230458 pathogenic Deficiency of acetyl-CoA acetyltransferase 2021-05-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the ACAT1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408). This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of Beta-ketothiolase deficiency (PMID: 1346617, Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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