ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.121-3C>G

dbSNP: rs1591361919
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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 RCV000844771 SCV000966037 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV000844771 SCV004296132 pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-05-24 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 28875337, 33708533). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as 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: 666466). This variant is also known as IVS2-3C>G. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 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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