ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003460280 SCV004214600 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003460280 SCV004326335 pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr239Serfs*15) 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. For these reasons, this variant has been classified as Pathogenic.

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