ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)

dbSNP: rs746332363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844842 SCV000966125 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000844842 SCV002243896 pathogenic Deficiency of acetyl-CoA acetyltransferase 2021-05-27 criteria provided, single submitter clinical testing Experimental studies have shown that this variant affects ACAT1 protein function (PMID: 15128923). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACAT1 protein function. This variant has been observed in individual(s) with clinical features of beta-ketothiolase deficiency (PMID: 15128923, 20157782). ClinVar contains an entry for this variant (Variation ID: 666533). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with aspartic acid at codon 397 of the ACAT1 protein (p.His397Asp). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and aspartic acid.
Baylor Genetics RCV000844842 SCV004217079 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2024-03-11 criteria provided, single submitter clinical testing

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