ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)

dbSNP: rs1338023969
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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 RCV000844833 SCV000966112 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000844833 SCV002230113 pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ACAT1 function (PMID: 15877211). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 347 of the ACAT1 protein (p.Ile347Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with beta-ketothiolase deficiency (PMID: 15877211, 28689740). 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: 666524). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ACAT1 protein function.

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