ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)

dbSNP: rs1565297723
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844831 SCV000966109 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Revvity Omics, Revvity RCV000844831 SCV002021683 pathogenic Deficiency of acetyl-CoA acetyltransferase 2021-03-26 criteria provided, single submitter clinical testing
Invitae RCV000844831 SCV003440315 pathogenic Deficiency of acetyl-CoA acetyltransferase 2022-10-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 666523). This premature translational stop signal has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 28220263). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu345Argfs*10) in the ACAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACAT1 are known to be pathogenic (PMID: 7749408).

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