ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.330dup (p.Ala111fs)

dbSNP: rs2496585397
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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 RCV002811084 SCV003205346 pathogenic Deficiency of acetyl-CoA acetyltransferase 2022-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ala111Cysfs*66) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACAT1-related conditions.

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