ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)

dbSNP: rs2134791667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936720 SCV002225261 pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-05-08 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: 1439830). This variant has not been reported in the literature in individuals affected with ACAT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln372*) 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).
Baylor Genetics RCV001936720 SCV004214777 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2022-12-21 criteria provided, single submitter clinical testing

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