ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.824del (p.Asn275fs)

dbSNP: rs1163072872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913414 SCV002183129 pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn275Metfs*4) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ACAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1408987). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001913414 SCV002811583 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2021-11-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV001913414 SCV004214766 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-12-27 criteria provided, single submitter clinical testing

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