ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.940+1G>T

dbSNP: rs1591371185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844820 SCV000966097 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000844820 SCV004296136 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-01-16 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with mitochondrial acetoacetyl-CoA thiolase deficiency (PMID: 28689740). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 9 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). ClinVar contains an entry for this variant (Variation ID: 666512). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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