ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)

dbSNP: rs120074142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844766 SCV000966031 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000844766 SCV001586091 pathogenic Deficiency of acetyl-CoA acetyltransferase 2024-02-29 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ACAT1 mRNA. The next in-frame methionine is located at codon 91. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 8103405, 12754704, 28220263). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 666461). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon affects ACAT1 function (PMID: 12754704). For these reasons, this variant has been classified as Pathogenic.

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