ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.940+2dup

dbSNP: rs2134773243
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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 RCV002042397 SCV002291325 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2022-10-19 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1499674). This variant has been observed in individual(s) with beta-ketothiolase deficiency (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the ACAT1 gene. It does not directly change the encoded amino acid sequence of the ACAT1 protein. It affects a nucleotide within the consensus splice site.

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